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| 3850 | RPPR Frequently Asked Questions | Budget If components were consolidated (including budget) to simplify reporting but maintained separate component narratives within the RPPR structure, may grantees “unbundle” the component budgets and structure them in a way that more closely aligns with their programs? What amounts should be used as the budget targets for the CTSA Program RPPR for the UL1, KL2 and TL1 mechanisms? Are grantees required to report the National Research Service Award (NRSA) stipend increase effective fiscal year 2016 for pre- and postdoctoral scholars and trainees? When a sub-award/consortium is added to one or more components under the UL1 RPPR, the system will not calculate the sum of sub-awards into the overall budget. Will the system carry over the sum of what is entered in the components boxes in section H.F.5? How should cost-sharing be addressed? Is it acceptable to state the total direct cost dollar amount of the cost sharing at the end of highlights section? What kind of information is required for the budget justification section? Components For the administration and executive (Principal Investigator, etc.) section, should an “Admin Core” component be added for that budget? Should the highlights, milestones and challenges report for non-grant-funded components be included in the RPPR? Is a project narrative required for the Admin Core? Per the RPPR reference table, several of the UL1 component instructions appear to be items uploaded in the UL1 overall section. For example, Section B.2 in UL1 components says to follow CTSA Program-specific instructions. However, these instructions say to upload the milestones, highlights and challenges report, evaluation report and revisions/supplements. Shouldn’t these materials be uploaded in the UL1 overall and not the UL1 component? Are cover letters still required for each sub-award, and if so, where would they be uploaded in the RPPR? The CTSA Program-specific instructions state that grantees need to complete sections A-H for each component. Is it A-H on the regular RPPR instructions or A-H on the special CTSA Program instructions for the UL1 overall? There are separate sections of B.3 for the revision/supplement title and the specific aims. Should grantees include the remainder of the report — Accomplishments, Challenges and Status of Milestones — in the “Accomplishments” text box for section B.3? If so, are all three of these items to be addressed within the 700-character limit? Based on the RPPR reference table for the UL1 overall, section F.3 A-B should use CTSA Program-specific instructions, but none are listed in the CTSA Program-specific instructions document. Is this correct? Based on the RPPR reference table for the KL2 and TL1, sections F.3 A-D and G.1 require CTSA Program-specific instructions, but none are listed in the CTSA Program-specific instructions document. Is this correct? Technology Transfer/IRB/IACUC Is it accurate that the 2016 RPPR only requires institutional review board (IRB) and Institutional Animal Care and Use Committee (IACUC) tables for UL1 pilot projects and KL2 scholar and TL1 trainee protocols? The CTSA Program RPPR instructions indicate that grantees should include the i-EDISON report number for any CTSA Program-related inventions in question C.4. Question C.4 is a yes/no question, with no upload option. When reporting any CTSA Program-related inventions, should grantees upload the i-EDISON report number along with the Investigational New Drug/Investigational Device Exemption report in C.5.a, Other Products, if applicable? Clinical Trials As part of the CTSA Program RPPR submission, are National Clinical Trial numbers (NCT#s) required? If so, when? Should information on clinical trials, inclusion enrollment reports and ClinicalTrials.gov registration be included in the CTSA Program RPPR only for NIH-defined clinical trials directly supported by the CTSA Program or for any clinical trial that meets the NIH definition of clinical trial that is supported by the CTSA Program? Other If CTSA Program-related pilot projects are supported by university dollars and not CTSA Program dollars, should they be reported in the RPPR? Section B.4 of the CTSA Program-specific instructions includes requested information for training and professional development opportunities under the UL1 mechanism. Should CTSA Program grantee institutions report UL1-funded training and professional development incurred by staff? Should publications for non-grant-funded activities be included in the RPPR? Are there any plans to deploy an “autosave” feature in the future? Will a template be provided to gather information in the order required by the RPPR? Is the RPPR required for the final closeout report from institutions with awards ending in 2016 that are submitting a new application? For More Information What if grantees have additional questions? Budget If components were consolidated (including budget) to simplify reporting but maintained separate component narratives within the RPPR structure, may grantees “unbundle” the component budgets and structure them in a way that more closely aligns with their programs? Please include each programmatic component with its accompanying budget to accurately reflect your CTSA Program hub as presented in the competing grant application. Please use the appropriate titles for the RPPR components as indicated in the relevant funding opportunity announcement. What amounts should be used as the budget targets for the CTSA Program RPPR for the UL1, KL2 and TL1 mechanisms? Are grantees required to report the National Research Service Award (NRSA) stipend increase effective fiscal year 2016 for pre- and postdoctoral scholars and trainees? The budget target amounts for the UL1, KL2 and TL1 should be based on the committed level as indicated in the most recent Notice of Award. Grantees are permitted to request to re-budget between the UL1, KL2 and TL1 components only during the RPPR type 5 submission/review process. When re-budgeting funds between components, the total award commitment for all three components should not exceed the total (UL1, KL2, TL1) committed level. The one exception to this is the NRSA stipend. The RPPR should be submitted using the most recently published NRSA policy guide (NOT-OD-16-047). Any policy announcements changing the NRSA rates after RPPR submission will be reflected by an administrative action by NCATS. Grantees should not re-budget funds from the UL1 or KL2 component to cover an increase in the NRSA rates. Any increase in the NRSA rates is considered an increase in award above the committed level. When a sub-award/consortium is added to one or more components under the UL1 RPPR, the system will not calculate the sum of sub-awards into the overall budget. Will the system carry over the sum of what is entered in the components boxes in section H.F.5? The system will carry over the sum entered in the components’ budget section H.F.5 for all sub-award/consortium budgets. Ensure that the figure entered in section H.F.5 for each component’s sub-award/consortium is correct, as the system will not calculate this amount automatically. How should cost-sharing be addressed? Is it acceptable to state the total direct cost dollar amount of the cost sharing at the end of highlights section? The voluntary institutional commitment should be addressed in a similar format to which it was portrayed in the competing application. If the competing application included an itemized breakdown of budget items covered through institutional cost share, then this breakdown should be provided in the RPPR budget justification for the relevant components. If the cost share was presented in the competing application as a lump sum and there are no changes to the committed level, then this could be presented in the highlights section. Note: Any significant change to the level of cost share commitment or usage of these funds requires prior approval. What kind of information is required for the budget justification section? In the PDF attachment for the budget justification, please include the suggested table, detailing all expenses and describing significant changes from previously recommended levels in a narrative accompanying the table. Back to top Components For the administration and executive (Principal Investigator, etc.) section, should an “Admin Core” component be added for that budget? Yes. Should the highlights, milestones and challenges report for non-grant-funded components be included in the RPPR? Do not create additional components for activities that are supported solely by the institution. Feel free to include some of these activities in the description of the CTSA Program grantee institution, in its entirety, in the overall component. Refer to the question above regarding cost share reporting. Is a project narrative required for the Admin Core? Yes. Per the RPPR reference table, several of the UL1 component instructions appear to be items uploaded in the UL1 overall section. For example, Section B.2 in UL1 components says to follow CTSA Program-specific instructions. However, these instructions say to upload the milestones, highlights and challenges report, evaluation report and revisions/supplements. Shouldn’t these materials be uploaded in the UL1 overall and not the UL1 component? Each key function/service/resource should be reported as a separate component with its own sections A through H. Instructions for additional component reporting are in section 7.6.2 of the NIH General RPPR Instructions; please follow them carefully. Note: Some of the sections and questions do not apply at the individual component level, and those should be marked accordingly (e.g., Section D. Participants). Are cover letters still required for each sub-award, and if so, where would they be uploaded in the RPPR? Cover letters for sub-awards are not required when submitting an RPPR. The CTSA Program-specific instructions state that grantees need to complete sections A-H for each component. Is it A-H on the regular RPPR instructions or A-H on the special CTSA Program instructions for the UL1 overall? The CTSA Program-specific instructions are to be used in conjunction with the NIH RPPR instructions. To comply with these two sets of instructions, create separate components for the overall CTSA Program project and for each key function/resource/service. Follow the RPPR CTSA Program-specific instructions (PDF - 265KB) and the NIH RPPR instructions, specifically section 7.6.2, Component Instructions. There are separate sections of B.3 for the revision/supplement title and the specific aims. Should grantees include the remainder of the report — Accomplishments, Challenges and Status of Milestones — in the “Accomplishments” text box for section B.3? If so, are all three of these items to be addressed within the 700-character limit? Yes. Please address revisions/supplements in the B.3 text box within the designated 700-character limit. Based on the RPPR reference table for the UL1 overall, section F.3 A-B should use CTSA Program-specific instructions, but none are listed in the CTSA Program-specific instructions document. Is this correct? The RPPR reference table indicates that both the NIH RPPR instructions and the CTSA Program-specific instructions (PDF - 265KB) should be followed. At this time, there are no instructions for F.3 A-B in the CTSA Program-specific instructions. Please follow the NIH RPPR instructions for these questions. Based on the RPPR reference table for the KL2 and TL1, sections F.3 A-D and G.1 require CTSA Program-specific instructions, but none are listed in the CTSA Program-specific instructions document. Is this correct? The RPPR reference table indicates that both the NIH RPPR instructions and the CTSA Program-specific instructions (PDF - 265KB) should be followed for section F.3 A-D. At this time, there are no instructions for F.3 A-D or G.1 in the CTSA Program-specific instructions. Please follow the NIH RPPR instructions for these questions. Back to top Technology Transfer/IRB/IACUC Is it accurate that the 2016 RPPR only requires institutional review board (IRB) and Institutional Animal Care and Use Committee (IACUC) tables for UL1 pilot projects and KL2 scholar and TL1 trainee protocols? Yes. The CTSA Program RPPR instructions indicate that grantees should include the i-EDISON report number for any CTSA Program-related inventions in question C.4. Question C.4 is a yes/no question, with no upload option. When reporting any CTSA Program-related inventions, should grantees upload the i-EDISON report number along with the Investigational New Drug/Investigational Device Exemption report in C.5.a, Other Products, if applicable? Yes. Back to top Clinical Trials As part of the CTSA Program RPPR submission, are National Clinical Trial numbers (NCT#s) required? If so, when? Only CTSA Program-supported clinical trials must be reported in the CTSA Program RPPR. Reminder: The CTSA Program cannot support clinical trials beyond Phase IIb. Should information on clinical trials, inclusion enrollment reports and ClinicalTrials.gov registration be included in the CTSA Program RPPR only for NIH-defined clinical trials directly supported by the CTSA Program or for any clinical trial that meets the NIH definition of clinical trial that is supported by the CTSA Program? Only clinical trials directly supported by the U, T and K mechanisms that meet the NIH definition of clinical trial should be reported. Back to top Other If CTSA Program-related pilot projects are supported by university dollars and not CTSA Program dollars, should they be reported in the RPPR? Yes. Please provide information on institutional support and commitment in the reporting period and any proposed modifications for the coming year in the appropriate section. All institutional support and commitment reflected in a particular budget must be clearly stated and properly justified. Section B.4 of the CTSA Program-specific instructions includes requested information for training and professional development opportunities under the UL1 mechanism. Should CTSA Program grantee institutions report UL1-funded training and professional development incurred by staff? CTSA Program awardees may include such individuals as study coordinators, research assistants and investigators who take coursework to expand their expertise in clinical and translational science. Topics may include recruitment methods, biostatistics, regulatory science, ethics and/or clinical study design. In addition, there may be certificate programs offered in clinical and translational science, which are not supported under the K or T mechanisms. Finally, workshops supported through the UL1 to foster collaboration, share best practices or review standards for pilot projects may be included. Should publications for non-grant-funded activities be included in the RPPR? No. Are there any plans to deploy an “autosave” feature in the future? Will a template be provided to gather information in the order required by the RPPR? NIH continues development of the RPPR system and will alert the community as progress is made via notices in the NIH Guide. At this time, NCATS is unaware of any plans for an automatic save feature. The information required in the RPPR is essentially the same information required in previous years, and the order in which data are submitted is not prescribed. The NIH RPPR instructions and the CTSA Program-specific instructions (PDF - 265 KB) from NCATS should provide sufficient detail to gather the required information. Some suggested templates for PDF attachments have been included in the CTSA Program-specific instructions; however, these are not required. Is the RPPR required for the final closeout report from institutions with awards ending in 2016 that are submitting a new application? NIH anticipates transitioning from the Final Progress Report to the final RPPR format in the near future, at which point electronic submission through eRA Commons will become mandatory. In the meantime, a Final Progress Report is required and should be submitted no later than 120 days after the project end date. As NIH continues development of the RPPR for final progress reports, the community will receive updates about any changes. Back to top For More Information What if grantees have additional questions? Send your questions via email to CTSARPPRQuestions@mail.nih.gov. Answers in response to emailed questions may be added to this page at a later date. | ||||||||
| 3827 | 2016 Director’s Messages | Select a 2016 message from the list below: Jan. 28, 2016: A New Year’s Resolution for Accelerating Progress in Translational Science Feb. 23, 2016: Celebrating Progress at Rare Disease Day 2016 March 21, 2016: A New Horizon for Discovering Rare Disease Therapies April 28, 2016: Training the Translational Science Leaders of the Future May 24, 2016: A Biomedical Data Revolution for Accelerating Translation June 21, 2016: Streamlining the Institutional Review Board Approval Process to Accelerate New Treatments for Patients July 15, 2016: Engaging Patients Is Crucial to Improving the Translational Process Aug. 19, 2016: Tackling the Adherence Challenge at the Culmination of the Translational Odyssey Sept. 29, 2016: A New Phase for NCATS’ Tissue Chip Program Oct. 24, 2016: Translator Comes Alive! Nov. 29, 2016: NCATS’ Strategic Plan Sets Stage for Future Translational Science Advances Dec. 21, 2016: Celebrating Five Years of Innovation in Translational Research Jan. 28, 2016: A New Year’s Resolution for Accelerating Progress in Translational Science Some of the most common New Year’s resolutions are health-related, and NCATS is no exception — but we aim for resolutions that will be more durable than average, since evidence shows that most resolutions are broken by February! 2016 began on a wonderful note, with a fiscal year budget boost from Congress that will help greatly in our efforts to translate scientific discoveries into tangible interventions that improve human health. A few NCATS resolutions follow to presage an exciting year ahead. Our first New Year’s resolution is to expand successful initiatives, such as our Tissue Chip for Drug Screening program. Since the launch of this program in 2012, collaborating researchers have successfully developed tissue chips representing over a dozen organs and are now working to integrate them into multi-organ systems. The next step will be to establish testing centers where researchers can use select groups of compounds and drugs to validate the tissue chips’ performance in mimicking drug responses in humans. This testing will bring the tissue chip program closer to the goal of creating therapeutic development models that more accurately reflect human physiology and thus serve as more reliable testing systems to determine safety and efficacy of new compounds. NCATS also resolves to continue building local, collaborative and network capacity in the Clinical and Translational Science Awards (CTSA) Program. Following up on our 2015 funding opportunity announcements, we plan to issue new awards this year to support greater quality and efficiency in multisite clinical research, improved clinical trial recruitment, and collaboratively developed approaches toward accelerating the clinical and translational research process. Another 2016 NCATS resolution is to ramp up research on rare diseases, through collaborative efforts to study the commonalities and underlying molecular causes across related disorders. Rare diseases are devastating and costly for patients, families and the nation as a whole, partly due to the severity of these conditions but also because diagnosis can be difficult and is often possible only well after symptoms have appeared. Our new approach to rare diseases research, including our flagship Rare Diseases Clinical Research Network, promises to accelerate the pace of progress in rare diseases. Brand-new initiatives are on the horizon as well, including 3-D bioprinting of human tissues for drug screening and increasing access to compounds and toxicity data to make identification of new therapeutics easier and more predictable. We’re already working on our resolutions, and we expect 2016 to be an exciting year for NCATS! Please stay in touch to learn more about and take part in our transformation of translational research as we work to get more treatments to more patients more quickly. Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences Feb. 23, 2016: Celebrating Progress at Rare Disease Day 2016 During the weeks leading up to the annual Rare Disease Day at NIH, I have been reflecting on my career path in clinical medicine and therapeutics development. Three decades ago, when I was training to be a neurologist, I too often had to deliver the disheartening news to my patients with rare neurological diseases that I couldn’t do much, if anything, for them. We simply didn’t know enough about the diseases, and very few had any treatment. My desire to change that status quo led me from the clinic into the basic research laboratory, and then to the field that connects them: translational research. Like other young physician-scientists at the time, I suspected that genetics was the key to deciphering rare diseases and discovering therapeutics for them. Thirty years later, that hunch has turned out largely to be true, albeit with caveats. As exemplified by the Human Genome Project, we know exponentially more about genetics, biology and physiology than ever before. But most of the diseases that were untreatable when I was in training remain so today, so the promise of this spectacular science has yet to reach most patients in need. Translation of fundamental research into interventions has lagged, especially for the more than 6,500 rare diseases that affect humans. Today, only a few hundred rare diseases have any FDA-approved treatment. Though the pace of rare disease therapeutic development has increased in recent year — of the drugs approved by FDA in 2015, almost half were for rare disorders — the large number of currently untreatable diseases calls for a fundamentally different approach to rare disease translation. The longstanding “one disease at a time/one organ at a time” therapeutic development model is both inadequate and unnecessary given the science of 2016. Through its programs and initiatives, NCATS is focusing on rare disease commonalities and shared underlying molecular causes. By identifying commonalities across diseases, scientists have the potential to accelerate the development and demonstration of treatments for multiple diseases at once. We also must disseminate the knowledge gained and support awareness, advocacy and collaboration among researchers in the public and private sectors, patients, patient advocates, and policymakers. That’s the purpose of Rare Disease Day at NIH, which is sponsored by NCATS and the NIH Clinical Center. This year’s February 29 event — Leap Day is rare and special, as are rare disease patients — will feature presentations from NIH leadership, leading scientists, government representatives, patient advocacy groups, and caregivers; poster sessions and exhibits; an art show; and tours of the NIH Clinical Center. I urge you to register today to join us! Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences March 21, 2016: A New Horizon for Discovering Rare Disease Therapies Last month, in anticipation of Rare Disease Day at NIH, I wrote about the importance of rare diseases research and NCATS’ multifaceted approach to tackling these conditions. I’m delighted to report that the NIH event was a standing-room-only, record-breaking success and that the unprecedented number of participants included members of Congress as well as leaders in academia, industry, government and patient advocacy. The increasing interest in Rare Disease Day speaks to the research community’s growing commitment to understanding rare diseases and the process by which treatments for them are discovered and deployed. This month, I will focus on specific examples that illustrate this encouraging trend. I often speak about the number of rare conditions that have no Food and Drug Administration (FDA)-approved treatment, so the movement of a disease into the “treatable” category for the first time is always a cause for celebration. This occurred recently with the first FDA approval of a drug therapy for lymphangioleiomyomatosis (LAM), a rare, progressive, often fatal lung disease that primarily affects women of childbearing age. It is characterized by buildup of abnormal tissue in the lungs that blocks airflow and makes breathing increasingly difficult. With support from NCATS’ Rare Diseases Clinical Research Network, a team led by researchers at Cincinnati Children’s Hospital Medical Center demonstrated in a clinical trial that sirolimus (Rapamune), a drug already approved to prevent organ rejection in patients receiving transplants, stabilized LAM patients’ lung function, reduced their symptoms, and improved measurements for quality of life. Those results led to the FDA’s approval of sirolimus as the first drug indicated for the treatment of LAM. The approval of sirolimus for LAM is another success for repurposing, which is the process of using existing therapies to treat new diseases based on commonalities in the molecular causation of clinically disparate conditions. This approach is a central theme of Recursion Pharmaceuticals, a company being supported by NCATS’ Small Business Innovation Research and Small Business Technology Transfer programs. Recursion scientists use automation and robotics to carry out high-throughput drug repurposing screens for multiple rare diseases in parallel, and currently they are working to validate 12 promising repurposed drug candidates for several medical conditions. Translation is a team sport, and NCATS’ goal of getting more treatments to more patients more quickly will be realized most effectively by teamwork with fellow rare disease researchers all over the world. This vision was the genesis of the International Rare Diseases Research Consortium (IRDiRC), founded in 2010. This month, I became the new chair of the IRDiRC executive committee; in fact, I am writing this message on a plane coming back from a tremendously exciting meeting of that committee in Lyon, France. I look forward to keeping you informed about our projects and progress, both domestic and international, in the months to come. Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences April 28, 2016: Training the Translational Science Leaders of the Future Biomedical scientists likely remember their graduate school days as being filled with learning the basics of their scientific disciplines, how to critically read journal articles and write their own, and other best practices for contributing new knowledge to their fields. However, too few learn how to translate their discoveries into interventions that improve health. This is one key reason translation is currently a slow and inefficient process. A critical part of NCATS’ mission is to strengthen the translational science workforce through innovative education and training initiatives, mentored research programs and career development support for translational investigators. One exciting initiative is the Translational Science Training Program (TSTP) at NIH. This collaborative effort between NCATS and the NIH Office of Intramural Training and Education offers NIH intramural postdoctoral fellows and graduate students the opportunity to learn more about the science and operation of the full spectrum of translation. The annual program features a mixture of classroom-based instruction, small group discussions and a hands-on workshop to introduce NIH trainees to fundamentals of the therapeutic development process, professional skills development, clinical trial terminology and career exploration in translational science. Follow-up participant surveys show that the program has been very successful, with multiple alumni going on to establish successful careers in translational science. In the NCATS “3Ds” vernacular, we developed the TSTP, demonstrated its utility and, as will be outlined in a forthcoming publication, plan to disseminate the course as a model to be used by academic institutions and other translational research organizations to educate and train tomorrow’s translational scientists. The NCATS Clinical and Translational Science Awards (CTSA) Program supports two formal clinical research training awards at CTSA Program institutions, as well as a wealth of training resources available to all investigators interested in translational research. You can read about a scientist who used some of those resources to open new doors at the University of Miami Clinical and Translational Science Institute (CTSI), a CTSA Program hub. As a new assistant professor at Miami, Suhrud Rajguru, Ph.D., attended a “boot camp” similar to the TSTP offered through the CTSI and used several CTSI resources to develop a device to improve cochlear implant surgery. To help fellow researchers at Miami benefit from the knowledge he gained in moving his device to the clinic, he is participating in the NCATS-supported “train-the-trainer” program to bring an Innovation Corps (I-Corps) short course to Miami to provide entrepreneurship training to other translational scientists. These young scientists — TSTP alumni, CTSA Program trainees and leaders like Rajguru — are paving the way to a new era in which biomedical researchers will begin their careers equipped with the tools and knowledge to more effectively translate basic science into interventions to improve human health. Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences May 24, 2016: A Biomedical Data Revolution for Accelerating Translation NCATS accelerates translational science through initiatives that push the boundaries of biomedical research to revolutionize the way we study diseases and discover treatments. I am very excited about a new such signature initiative: NCATS’ Biomedical Data Translator program, called Translator for short. As I have previously discussed in this space, one of the roadblocks to translation is the siloed nature of biomedical research across diseases and disciplines, which impedes discovery of commonalities across diseases and the teamwork required for successful translation. The ultimate vision for Translator is an informatics platform enabling interrogation of relationships across the full spectrum of data types, from disease names, clinical signs and symptoms, to organ and cell pathology, genomics, and drug effects. Collaborative teams of innovators of unprecedented scope are being summoned to make this vision a reality in our Center’s recently released funding opportunity announcement (PDF - 134KB). Currently, a tremendous amount of data — from biomedical research, disease classifications, health records, clinical trials and adverse event reports — is available and useful for understanding health and disease and for developing and identifying treatments for diseases. Unfortunately, these very rich data types are individually incomplete and exist in different locations and are often in different scientific languages that are not compatible or “translatable” to others. NCATS’ goal with Translator is to merge all this information together in order to provide new ways of understanding the basis of diseases and new approaches to treatment. This approach will enable the bridging of the current symptom-based diagnosis of disease classification with research-based molecular and cellular characterizations that can be targeted by various preventative and therapeutic interventions. This multiyear, iterative effort will produce a publicly available, comprehensive, relational, N-dimensional Biomedical Data Translator that will be useful for researchers worldwide to facilitate their translational efforts. For the first step of the program, as outlined in the FOA, NCATS is using its Other Transactions Authority (through the Cures Acceleration Network) to invite innovative proposals for addressing the architecture needs to build the Translator and to assess its technical feasibility. Translator is an unprecedented effort to push beyond the “business-as-usual” incremental approach to translational science and bring about rapid, high-impact change that will get more treatments to more patients more quickly. Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences June 21, 2016: Streamlining the Institutional Review Board Approval Process to Accelerate New Treatments for Patients A colleague here at NCATS received devastating news last year: Her 4-month-old grandson had been diagnosed with a rare brain tumor. The cancer failed to respond to first- and second-line chemotherapy, but molecular testing of the tumor revealed a target for which there was a potential treatment. The drug, however, was not widely available to children so young, so the boy would need to be enrolled in a clinical trial. The good news came that there was such a trial, raising the family’s hopes for an effective treatment. But then they learned the bad news: The trial was stalled due to problems getting multisite institutional review board (IRB) approvals. The child’s mother crystalized the issue with her response: “I don’t understand. Don’t they know brain tumors don’t wait for IRBs?” One of the longstanding challenges for clinical research is the process of obtaining human-subjects approval from multiple IRBs for clinical studies. Researchers cannot begin recruiting participants until an IRB reviews and approves the protocol for conducting research on human subjects. When the same protocol is reviewed by many different IRBs in a multisite study, the redundancy of this process can lead to long delays. No disease waits for IRBs or other obstacles that slow clinical research. Time, for my colleague and her family — and so many others — really can mean a life. NCATS’ mission is to develop solutions to these kinds of systemic, previously intractable translational science problems. Through its Clinical and Translational Science Awards (CTSA) Program, NCATS develops, demonstrates and disseminates approaches to improve and streamline clinical studies. One way to do this and to provide more consistent, high-quality IRB reviews is for all sites participating in a multisite clinical study to rely on the review of a single IRB. Such “IRB reliance” would mitigate a major roadblock to the translation of research discoveries into health benefits. Given its potentially transformational impact, we at NCATS made the creation of a national single-IRB platform a top priority, and I am now proud to announce the fruit of these labors: the launch of the NCATS Streamlined, Multisite, Accelerated Resources for Trials (SMART) IRB Reliance Platform. The SMART IRB Reliance Platform is designed to provide a flexible prototype that can easily be used by any clinical research network or even a single investigator wishing to conduct a multisite clinical study. It will serve as a roadmap to help implement NIH’s requirement that all NIH-funded multisite clinical studies use a single IRB. SMART IRB Reliance Platform builds on the successful experiences of several NIH central IRB initiatives and those of multiple regional CTSA Program networks, including a CTSA Program demonstration project called IRBrely. The bold, game-changing SMART IRB concept never could have come to fruition without the collaborative, team and trust-based relationships that CTSA Program investigators have built over many years in their efforts to improve clinical and translational science. As we like to say around here, “translation is a team sport,” and never was this more true than in the development of SMART IRB. NCATS will continue to collaboratively develop, test and disseminate SMART IRB as a trusted national standard for single IRB reliance for clinical studies. This advance promises to help the countless patients — such as my colleague’s grandson — who so desperately need new therapies. Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences July 15, 2016: Engaging Patients Is Crucial to Improving the Translational Process Engaging patients at all stages of translation is crucial: Their input and perspectives as members of the research team help provide insights, focus, urgency and connectivity that can be instrumental in making the development, testing and deployment of new interventions more efficient and effective. NCATS views the science of patient engagement as a key area for exploration and innovation. As a related communications endeavor to help make researchers and the public more aware of the challenges that rare disease patients and their families face, NCATS has produced 10 video stories that I hope you will take the time to view and share. In the preclinical arena, James Inglese, Ph.D., director of NCATS’ Assay Development and Screening Technology Laboratory, forms collaborative relationships with numerous rare disease organizations to launch early-stage drug discovery efforts. These agreements involve foundation support for postdoctoral researchers with expertise in a particular disease to work with Inglese, a world expert in developing drug testing systems for novel therapeutic targets. Most recently, Inglese announced such an agreement with the Global Foundation for Peroxisomal Disorders and the Wynne Mateffy Research Foundation, which fund research on a group of rare genetic conditions that appear at birth or in early life, causing multi-organ dysfunction and life-threatening complications. The aim is to identify a promising potential treatment. On the clinical side, NCATS requires all Rare Diseases Clinical Research Network (RDCRN) consortia to include patient groups as full partners on their research teams, an innovative approach that helps achieve greater success, including in design and enrollment of clinical studies. The RDCRN Coalition of Patient Advocacy Groups develops and shares best practices, and the RDCRN website includes a web-based contact registry for patients who may be interested in participating in RDCRN clinical studies. NCATS also engages patients through its Genetic and Rare Diseases Information Center (GARD), which provides comprehensive information about rare and genetic diseases to patients, their families, health care providers, researchers and the public. GARD provides accurate, up-to-date information about ongoing research, symptoms, treatment options and other details. In addition, NCATS continues to collaborate with organizations that share our commitment to understanding and implementing the science of patient engagement. For example, NCATS Health Scientist Shelley Brown, Ph.D., recently spoke at a FasterCures workshop focused on better understanding the influences that are helping or hindering patient-centered activities, identifying and prioritizing tools and templates to reduce resistance and remove practical barriers to patient engagement, and shaping the future agenda of collaborative activities to enable greater patient centricity. These are just some of the ways in which NCATS is committed to engaging patients, their families and the advocacy organizations that serve them, to form the teams that will get more treatments to more patients more quickly. Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences Aug. 19, 2016: Tackling the Adherence Challenge at the Culmination of the Translational Odyssey An oft-cited component of NCATS’ mission is getting more treatments to more patients more quickly. It’s tempting to assume that once a potentially life-saving therapy is developed in the laboratory, shown to be safe and effective in human trials, and enters clinical use, its health benefits are assured. But in fact, getting an intervention — a new drug, for example — to those who need it can take more than a decade, with many lives unnecessarily lost as a result. One reason for this is that patients often don’t take drugs as prescribed. This problem — called medication nonadherence — can be a major hurdle at the far end of the translational spectrum. Patients struggle with adherence for numerous reasons, such as unpleasant side effects, hard-to-understand instructions, complex dosing schedules, and high prescription costs. Experts estimate that, on average, medication adherence is around 50 percent. Approximately 20 percent to 25 percent of prescriptions are never filled; of those that are, 20 percent are not consumed. The potential consequences of nonadherence are serious. The resulting hospitalizations and poor health outcomes cost the U.S. approximately $290 billion each year. In addition, poor adherence prevents researchers from properly assessing drugs in clinical trials, contributing to a high failure rate for these studies. Clinical trials can cost $1 billion or more, and they most often fail because researchers cannot prove a therapy’s effectiveness or safety. Just as concerning, noncompliance during a trial may cause researchers and regulators to miss harmful side effects and allow unsafe drugs to enter the market. As in all other areas of translation, NCATS is developing, demonstrating and disseminating new technologies and approaches to improving medication adherence. For example, through its Small Business Innovation Research (SBIR) program, NCATS funded the work of a startup company, AiCure, to develop a remarkable artificial intelligence smartphone application that visually confirms a patient’s identity and medication intake. In other words, the technology helps ensure that the right patient takes the right medication at the right time. This video shows how the app works. AiCure now is under contract with five of the top 12 U.S. pharmaceutical companies to use the application to improve medication adherence in clinical trials. The team also intends to offer the technology for outpatient clinical care. Another example is from the South Carolina Clinical and Translational Research Institute at the Medical University of South Carolina (MUSC). With support from NCATS’ Clinical and Translational Science Awards (CTSA) Program, MUSC researchers are developing, studying and implementing mobile technology to improve patient adherence to medication and therapy. Their work includes the design of special electronic pill bottle caps, medication dispensers and blood pressure monitors that use Bluetooth technology paired with smartphone apps to monitor and enhance adherence to treatment regimens. Through these and other efforts to increase the efficiency of translation, NCATS is working to ensure that all patients receive the full benefits of promising new interventions as rapidly as possible. Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences Sept. 29, 2016: A New Phase for NCATS’ Tissue Chip Program Just five years ago, the idea of engineering a human-body-on-a-chip to predict drug safety and efficacy seemed more like science fiction than reality. But today, NCATS’ Tissue Chip for Drug Screening program, a collaborative initiative with the Defense Advanced Research Projects Agency and the Food and Drug Administration (FDA), is closer than ever to attaining that vision. In the first two years of the program, researchers developed individual tissue chips that could mimic human organ structure, function, and physiological and drug responses more accurately than traditional cell- and animal-testing methods. Currently, there are tissue chips for the heart, liver, blood-brain barrier, blood vessels, kidney, gastrointestinal system, nervous system, and female reproductive system, as well as models of adipose (fat) tissue, tumors and metastasis. During the next three years, teams of scientists joined forces to connect individual organ chips. Researchers collaborated to refine the chips and integrate them into systems that can mimic the complex interactions and diseases of the human body. This integration promises to enable real-time measurement of drug activity within and across various organs and tissues, such as in the liver and digestive system. Ultimately, the goal is to create an integrated body-on-a-chip that accurately models and predicts responses to new drugs, addressing and resolving common causes of drug development failure. Now, I’m delighted to introduce the Tissue Chip program’s newest phase, in which laboratories other than other than those that created the chips will “test drive” them to determine if they perform as intended; this wider testing is critical to any new technology intended for widespread use, to ensure reproducibility, accuracy and reliability. Tissue Chip Testing Centers (TCTCs) at the Massachusetts Institute of Technology and Texas A&M University will serve as testing sites, and a TCTC at the University of Pittsburgh will develop and maintain a database collating and sharing methods, protocols and chip performance data among the TCTCs and the Tissue Chip Consortium, which consists of tissue chip technology developers; government experts representing the FDA and more than 15 NIH Institutes, Centers and Offices; and industry partners. In addition to conducting tests of technical functionality and robustness, TCTC scientists will use drugs and investigational compounds vetted by pharmaceutical partners to determine biological validity — that is, whether the tissue chip platforms truly reproduce the effects that have been seen in humans who have taken these drugs. Over the past five years, NCATS has catalyzed the development of this potentially revolutionary translational technology and has demonstrated its utility for accurately modeling human physiology, diseases and drug responses. This has been possible due to the application of the core NCATS values of collaboration, utility and exponential improvement in translational effectiveness. As the dissemination phase of the program begins, I am optimistic that tissue chips will one day be as commonplace as computer chips and will have an equally large impact, fundamentally improving the efficiency and effectiveness of the translational process and helping to get more treatments to more patients more quickly. Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences Oct. 24, 2016: Translator Comes Alive! This past May, I wrote about the new NCATS Biomedical Data Translator program. I am delighted to report that we now have issued five awards totaling just over $5 million in Cures Acceleration Network (CAN) funds to researchers at 11 institutions who will collaborate with NCATS staff to design the architecture and test the feasibility of the Translator. For these inaugural Translator awards, NCATS used its CAN Other Transaction authority (PDF - 400KB), a flexible research funding mechanism by which we were able to assemble a scientific team of unprecedented scope to spur innovation and collaborative problem solving. This is a new way of doing business that aligns perfectly with NCATS’ mission to speed translation via innovative collaborative approaches. Last week, I attended the Translator kickoff meeting, at which the funded scientists shared their ideas and jointly devised a plan to create a whole that will be greater than the sum of their individual parts. It was exhilarating to experience the collaborative brainstorming atmosphere and the excitement with which the scientists are approaching this groundbreaking project. The new awardees bring together complementary expertise in informatics, computer science, preclinical development, disease biology, environmental health, and clinical medicine, among other areas. Over the next two years, they will work to develop a prototype informatics platform allowing interrogation of relationships across the full spectrum of biomedical data types to provide new ways of understanding the basis of diseases and to develop new approaches to treatment. NCATS staff will work closely with the team to modify, combine, initiate or discontinue certain activities based on data, emerging methods and technologies, and availability of funds. Two hundred years ago, chemists created a comprehensive enumeration of the elements and systematic relationships among them. This periodic table transformed chemistry by placing it on a firm scientific footing. I envision the Translator as doing the same for translational science. I encourage you to share in our excitement about this transformational NCATS signature initiative via the links above, and stay tuned for updates on our progress. Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences Nov. 29, 2016: NCATS’ Strategic Plan Sets Stage for Future Translational Science Advances Five years ago, NCATS was established to catalyze a transformation in the way health interventions are developed and to bring more treatments to more patients more quickly. This required new fundamental principles and approaches to define the burgeoning field of translational science. Just as the understanding of cells and organs created a basis for the development of interventions for the diseases that affect them, so will the understanding of the translational process create a basis for more science-driven, predictive and effective intervention development for the prevention and treatment of all diseases. This new science of translation is distinct in content, operations and culture. While this presents unique challenges in uncharted territory, it also provides us with unprecedented opportunities within the larger context of the biomedical enterprise. Encompassing many disciplines of science and operations, including biology, chemistry, informatics, pharmaceutics, engineering, medicine, public health, project management, team science, collaboration development and patient engagement, translational science defines the scientific and operational relationships among these fields, builds bridges and creates a network that leverages all stakeholders to more effectively develop and deliver interventions that benefit the health of the public. NCATS has engaged in a broad internal and external consultation process to establish a strategic plan that conveys not only what we aspire to accomplish, but also the enormous potential and excitement of our field. This has itself been a learning process, and our Center is much richer for the hundreds of contributors who have given us their best ideas, many of which you will read here. We have organized the NCATS Strategic Plan according to conceptual themes of translational science, collaborations, training and stewardship. Within these themes are NCATS’ goals and specific objectives and strategies that exemplify best approaches. We are proud of what has been accomplished during the first five years of NCATS, as described in our Annual Reports. Our new strategic plan sets the stage for the Center’s future and will be a living document that will be adapted over time and as relevant to the changing needs in translational science. NCATS is by design a different kind of scientific organization with a different kind of mission, epitomized by the word “translation” in our name, which is derived from Latin meaning “to carry across.” The science of carrying across from one field to another, from one part of the research ecosystem to another, to bring more treatments to more patients more quickly — this is the NCATS mission. We welcome all to join us in making this bold, collaborative and forward-looking plan a reality. Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences Dec. 21, 2016: Celebrating Five Years of Innovation in Translational Research NCATS celebrates its fifth birthday this month, providing us the opportunity to reflect on the remarkable progress of the last five years and share our plans for an even more transformative future. On Dec. 23, 2011, NCATS was officially established. It was conceived as a catalyst for innovation, with the audacious mission to transform translation from an empirical process to a predictive science and thereby get more disease treatments and cures to more patients more quickly. The NCATS team-based “3Ds” paradigm of developing, demonstrating and disseminating technologies and approaches that improve our scientific understanding and operations of translation has produced insights and advances well beyond what I thought possible five years ago. I will briefly reprise a few of these advances before explaining why I think this has happened and why it makes me so hopeful for the future. Our first accomplishments were existential: As a new Center with a unique mission, we first defined translation and the new field of translational science, which is NCATS’ focus. We defined the translational science spectrum, from basic discovery to public health. Our next accomplishments were cultural, establishing that “translation is a team sport” and that translational scientists focus on how their work is “carried across” to other disciplines or stages in the development process. Scientific and operational advances followed in rapid succession, many of which are featured on our fifth anniversary website page. Among those: In the preclinical area, NCATS chemists working on a multidisciplinary team identified a specific ketamine metabolite that likely holds the secret to ketamine’s rapid antidepressant action without the drug’s dissociative, euphoric and addictive properties. The findings could lead to the development of a safer and more practical ketamine-derived antidepressant that could lift depression within hours instead of weeks. NCATS’ Clinical and Translational Science Awards (CTSA) Program has evolved rapidly to increase the effectiveness of clinical research, including networking efforts to achieve increased quality and efficiency in the conduct of multisite studies, improved trial recruitment, and innovative training of translational science researchers. Examples include the NCATS Streamlined, Multisite, Accelerated Resources for Trials (SMART) Institutional Review Board (IRB) Reliance Platform to harmonize and streamline ethical review for multisite studies and the case study of a trainee at the University of Miami CTSA Program hub who developed a new technology to improve cochlear implant surgery. We began bold efforts to dramatically increase the pace of translational progress in rare diseases, which are disproportionately devastating and costly for patients, families and the nation as a whole due to the severity of these diseases, the difficulty of obtaining a timely diagnosis, and the lack of treatments. NCATS’ efforts to speed drug development have focused especially on rare disease patients. For example, NCATS investigators developed a sophisticated combination drug screening platform to more quickly narrow down a long list of potential drug combinations and find those with the most potential to help patients. Our new patient and caregiver videos help spread awareness of these diseases and what it’s like to live with them. As part of our efforts to provide the research community with tools and resources to facilitate the process of translation, NCATS launched its Biomedical Data Translator program earlier this year. The goal is to develop a groundbreaking, publicly available resource that brings together all biomedical and health data types using an informatics platform approach. Ultimately, researchers will have access to a powerful system that will enable discovery of complex relationships among data, helping scientists better understand disease and develop new treatments for patients. As I reflected on this remarkable progress, I recalled that five years ago, the problems that NCATS is now conquering were often called “intractable.” More than anything, what NCATS’ first five years have shown us is that such problems are not intractable but that solutions do require a fundamentally different approach that is unfailingly team based, innovation centered and patient focused. But our work has just begun. In our first five years, we have built a cultural, scientific and operational foundation for the myriad opportunities and challenges to come. Thank you for your partnership on this journey, and please stay with us as we aim to further accelerate the pace of progress, improving health through smarter science. Christopher P. Austin, M.D. Director National Center for Advancing Translational Sciences | ||||||||
| 3785 | Rare Diseases Human Biospecimens/Biorepositories (RD-HuB) | With recent advances in technology driving unprecedented progress in understanding what causes diseases and a stronger-than-ever focus on precision medicine, biospecimens have become an increasingly crucial resource for biomedical research. For example, biospecimens such as human tissue and bodily fluids (e.g., blood, saliva, urine) can be used to: Identify genes linked to specific diseases; Develop measureable indicators to show the presence, absence, or stage of a disease or biological process; Diagnose conditions in the clinic; Test potential new drugs for safety and effectiveness; and Develop therapeutics, including through pharmacogenomics studies, that focus on how genes affect a person’s response to drugs. For researchers studying rare diseases, access to high-quality samples can be challenging, because these conditions affect small numbers of patients, who typically are scattered across large geographical areas. NCATS encourages patient registry owners to collect and store high-quality samples linked to patient clinical data, using best practices and with institutional review board (IRB) approval. In January 2016, NCATS compiled the following central listing of RD-HuB; more resources will be added as they become available. BioLINCC, a biologic specimen and data repository resource Congenital Muscle Disease Tissue Repository, an IRB-approved biorepository EuroBioBank, a network of DNA, cell and tissue banks for rare diseases eyeGENE, a program created to enhance the study of inherited eye diseases Human Brain Collection Core, a resource for opportunities in mental health research International Plastic Bronchitis Registry contains patient clinical and demographic data National Disease Research Interchange provides human biomaterials Biobanco Nacional de Enfermedades Raras (BioNER; National Rare Diseases Biobank) provides biological samples to support national and international rare diseases research National Cancer Institute Residual Tissue Repository maintains biospecimens obtained from three population-based cancer registries National Institute of Diabetes and Digestive and Kidney Diseases Central Repository Red Biobancos Instituto de Salud Carlos III, a network of Spanish biobanks Sanford Health BioBank, a biobank for breast cancer and other diseases Vitiligo BioBank, a collection of biological samples and data to facilitate vitiligo research | ||||||||
| 3758 | Treatment of Acid Ceramidase Deficiency | Ceramides are a group of naturally occurring molecules present in the cell membrane. However, excess ceramide is toxic to the cell. The enzyme acid ceramidase (AC) is responsible for breaking down excess ceramide to maintain an appropriate balance. Genetic mutations that disrupt normal AC function (AC deficiency) lead to rare metabolic conditions, such as Farber’s disease, which strikes infants, causing crippling arthritis, lung inflammation, nervous system degeneration, and liver disease and resulting in premature death. The only available therapeutic option for AC deficiency is bone marrow transplant, an invasive medical procedure with significant risks. The scientists at Plexcera Therapeutics have developed an approach to deliver functional AC protein. The purpose of this project is to support the preclinical development of this enzyme replacement therapy. Scientific Synopsis Ceramides are present at high concentrations in the cellular lipid bilayer across a range of tissues and organs, including the liver, spleen, musculoskeletal system, and lungs. Loss of AC enzyme activity leads to toxic accumulation of ceramide in lysosomes and other organelles. Although macrophages can take up cells damaged by ceramide accumulation, they are unable to process the toxic ceramide itself. This inability results in a cascade of cell damage and apoptosis across these multiple tissues and organ systems. Enzyme replacement therapy is a well-established approach to treating metabolic disorders. The investigators at Plexcera have shown in patient-derived cellular models and animal models of Farber’s disease that a recombinant human acid ceramidase (rhAC) is able to break down the accumulated ceramide to normal levels in some tissues. This rhAC therapeutic approach represents a platform technology with the potential to treat not only Farber’s disease but also other rare conditions driven by lack of AC activity for which there are no effective therapies, such as spinal muscular atrophy with progressive myoclonic epilepsy. Lead Collaborators Enzyvant, Durham, North Carolina Alexander Solyom, M.D. Plexcera Therapeutics, Vero Beach, Florida Ivan Galanin Public Health Impact There are no targeted treatments approved for disorders driven by a deficiency of AC enzyme activity. These metabolic conditions strike in childhood or adolescence, exert devastating effects on multiple organ systems, and lead to premature death by age 20. Outcomes TRND scientists completed a rigorous gap analysis and created a preclinical development plan that identified a set of critical experiments and milestones for the project. During the planning phase, the lead collaborators established a new business alliance, enabling them to use internal corporate resources to continue preclinical development. | ||||||||
| 3750 | A Protein Replacement Drug for Friedreich’s Ataxia | Friedreich’s ataxia (FA) is a rare, progressive condition affecting multiple systems in the body. The disease typically begins in mid-childhood, leading to an inability to stand or walk within 15 years of onset. Patients experience progressive loss of voluntary muscle control and coordination, debilitating scoliosis (abnormal curvature of the spine), and heart failure leading to premature death by age 50. Some patients also develop diabetes and suffer loss of hearing and vision. There are no approved treatments for FA other than supportive care. The lead collaborator has developed a technology to deliver functional frataxin protein to patients. The purpose of this project is to support the development of this protein replacement therapy. Scientific Synopsis FA is a rare genetic disease caused by mutations that prevent production of the mitochondrial matrix protein frataxin (FXN), which functions in mitochondrial iron homeostasis, notably in the de novo biosynthesis of iron-sulfur cluster proteins. In its absence, free iron accumulates in mitochondria, iron-sulfur proteins lose activity and energy production fails through damage to the electron transport chain. The lead investigator has developed a protein replacement approach that uses a cell-penetrant peptide to deliver functional FXN to the mitochondrial matrix. Protein replacement therapy is a well-established approach to metabolic diseases, such as diabetes, lysosomal storage disorders and hemophilia. Work in patient-derived cellular and animal models has demonstrated that replacement of functional FXN using the peptide TAT can correct the FA disease phenotype. In a mouse model, TAT-FXN extends lifespan, corrects histology and biochemical defects, and improves cardiac and neurological function. Moreover, this TAT-protein delivery platform could be extended beyond FA, representing a technology with the potential to treat multiple mitochondrial disorders for which there are no current therapies. Lead Collaborator Chondrial Therapeutics, LLC, Indianapolis R. Mark Payne, M.D. Public Health Impact There are no approved treatments for FA. The disease strikes in childhood, is progressively debilitating and leads to premature death by age 50. Outcomes TRND scientists conducted additional efficacy and toxicology studies and developed and validated the biochemical assays necessary to evaluate the drug product. These studies supported the preparation and filing of an Investigational New Drug (IND) application with the Food and Drug Administration by the lead collaborators. The IND was cleared by the FDA, allowing clinical trials to begin. See ClinicalTrials.gov, NCT04176991. | ||||||||
| 3633 | Past Rare Disease Day at NIH Events | 2023 Agenda (PDF - 204KB) Videocast Event Photos Feature Story 2022 Agenda (PDF - 219KB) Videocast Event Photos Feature Story 2021 Agenda (PDF - 495KB) Videocast Event Photos Feature Story 2020 Agenda (PDF - 225KB) Videocast Event Photos Feature Story 2019 Agenda (PDF - 180KB) Videocast Event Photos Feature Story 2018 Agenda (PDF - 150KB) Videocast Event Photos Feature Story 2017 Agenda (PDF - 134KB) Videocast Event Photos 2016 Agenda (PDF - 178KB) Videocast Event Photos Rare Disease Patient Profiles 2015 Agenda (PDF - 119KB) Videocast 2014 Agenda (PDF - 188KB) Videocast 2013 Agenda (PDF - 206KB) Videocast Day 1 Videocast Day 2 2012 Agenda (PDF - 211KB) Videocast 2011 Agenda (PDF - 120KB) Videocast Morning Session Videocast Afternoon Session | ||||||||
| 3634 | Rare Disease Day at NIH 2019 | Rare Disease Day® takes place worldwide, typically on or near the last day of February each year, to raise awareness among policymakers and the public about rare diseases and their impact on patients’ lives. Each year, NCATS and the NIH Clinical Center (CC) sponsor Rare Disease Day at NIH as part of this global observance. This year’s global theme is “bridging health and social care.” 2019 Event Information Thursday, Feb. 28, 2019 8:30 a.m.-4:00 p.m. ET Main Auditorium, Natcher Conference Center, Building 45* National Institutes of Health Bethesda, Maryland *Note new, bigger location for 2019! Sponsored by NCATS and the CC, this year’s event will feature interactive panel discussions on collective research models for rare diseases, patient registries, rare cancer research initiatives, and "no disease left behind, no patient left behind." New this year will be a presentation of the first ever Zebbie award for the NCATS Rare Diseases are Not Rare! Challenge. Other highlights include posters and exhibits by rare disease groups and researchers as well as artwork, videos and CC tours. Admission is free and open to the public. In association with Global Genes®, participants are encouraged to wear their favorite pair of jeans. Be sure to follow the event on social media using #RDDNIH. Website • Agenda • Register • Poster/Exhibit Information • Webcast Partners in Planning Planning committee members include representatives from NCATS, the CC, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Cancer Institute, the National Institute of Neurological Disorders and Stroke, the National Organization for Rare Disorders, the Rare Diseases Clinical Research Network’s Coalition of Patient Advocacy Groups, the Food and Drug Administration, and The Children’s Inn at NIH. Event participants and partners include representatives from the Alpha-1 Foundation; the American Partnership for Eosinophilic Disorders; the Barth Syndrome Foundation; Beyond the Diagnosis; the Campaign Urging Research for Eosinophilic Disease; the Consortium of Eosinophilic Gastrointestinal Disease Researchers; Count Me In; the Developmental Synaptopathies Consortium; the Eosinophilic Family Coalition; the EveryLife Foundation for Rare Diseases; Genetic Alliance; Global Genes®; the Inherited Neuropathies Consortium; the International Rare Diseases Research Consortium; Massachusetts General Hospital; My Pediatric and Adult Rare Tumor Network; the National Heart, Lung, and Blood Institute; Rare Disease Legislative Advocates; Sarcoma Alliance for Research through Collaboration; TargetCancer Foundation; the Tuberous Sclerosis Alliance; and the Vasculitis Foundation. About Rare Disease Day Poster presenters at Rare Disease Day at NIH 2018. (Daniel Soñé Photography) EURORDIS sponsored the first Rare Disease Day in Europe on Feb. 29, 2008. The United States joined the first global observance the following year along with 23 other countries. Visit Rare Disease Day® for more information. About Rare Disease Day at NIH Each year, the slogan for NIH’s event has been “Patients & Researchers — Partners for Life.” This slogan aligns with NCATS’ philosophy that researchers must work closely with patients, families, caregivers and advocacy groups to maximize the chances for success in advancing rare diseases research. This philosophy has been put into practice in NCATS’ Toolkit for Patient-Focused Therapy Development, Rare Diseases Clinical Research Network, Therapeutics for Rare and Neglected Diseases program, and Genetic and Rare Diseases Information Center, among other efforts. The goals of Rare Disease Day at NIH are to: Demonstrate the NIH commitment to helping people with rare diseases through research; Highlight NIH-supported rare diseases research and the development of diagnostics and treatments; Initiate a mutually beneficial dialogue among public and private researchers, patients, patient advocates and policymakers; Exchange the latest rare diseases information with stakeholders to advance research and therapeutic efforts; and Put a face on rare diseases by sharing stories of patients, their families and their communities. Learn more about past Rare Disease Day at NIH events. NCATS and Rare Diseases Research Poster presenters at Rare Disease Day at NIH 2018. (Daniel Soñé Photography) About 7,000 rare diseases affect humans, of which only a few hundred have any treatment. Although each rare disease affects fewer than 200,000 Americans, in total, these illnesses affect an estimated 30 million people in the United States. Since rare diseases often are difficult to diagnose, it can take years to obtain an accurate diagnosis. Even after a proper diagnosis, treatment often is unavailable, because only about 5 percent of rare diseases have a treatment approved by the Food and Drug Administration. As a result, rare diseases are devastating and costly for patients, their families and the nation as a whole. Most rare diseases are serious or life-threatening, chronic and progressive disorders that place substantial medical and financial burdens on patients and their families. Through its work to improve health through smarter science, NCATS supports collaborative and innovative approaches to research on rare diseases. These efforts have the potential to speed development of treatments for multiple rare diseases and ultimately help more patients more quickly. | Rare Disease Day® takes place worldwide to raise awareness about rare diseases and their impact on patients’ lives. | /sites/default/files/RDD-2019-Logo.png | Rare Disease Day at NIH | Rare Disease Day® takes place worldwide to raise awareness about rare diseases and their impact on patients’ lives. | /sites/default/files/RDD-2019-Logo.png | Rare Disease Day at NIH | ||
| 3604 | GRDR® Resources | Access GRDR Templates Use these templates to submit data to the GRDR: Informed consent template (Word - 40KB) Common data elements (Excel - 49KB) Data access request (PDF – 252KB) Data submission agreement (PDF – 241KB) Get More Information Visit the following links for more information about the GRDR program, rare diseases registries and related topics. NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection. Contemp Clin Trials. 2015;20(42):78-80. Informed consent template for patient participation in rare disease registries linked to biorepositories. Rare Dis Orphan Drug. 2014;1(2):69–74. Informed consent process for patient participation in rare disease registries linked to biorepositories. Contemp Clin Trials. 2012;33(1):5–11. The case for a global rare-diseases registry. Lancet. 2011;377(9771):1057–9. Patient registry for the overlooked patient. Contemp Clin Trials. 2010;31(5):393. Letter to the editor. Contemp Clin Trials. 2010;31(5):393. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). Contemp Clin Trials. 2010;31(5):394–404. Genetics Home Reference, a guide to understanding genetic conditions. OrphaNews, the newsletter of the rare diseases community. Registries for Evaluating Patient Outcomes: A User's Guide: 3rd Edition, which supports the design, implementation, analysis, interpretation and quality evaluation of registries. | ||||||||
| 3603 | GRDR® Partners | The aim of the participating patient registries in the GRDR program is to accelerate research across all rare diseases and to develop new diagnostics and treatments for patient benefit. Clinical Registry Investigating Bard-Beidl Syndrome (CRIBBS) Bard-Beidl syndrome is a rare genetic disease that affects many parts of the body and often leads to impaired vision, chronic kidney disease and endocrine disorders. CRIBBS’ goal is to promote research and improve the lives of individuals affected by the complex disease. Coordination of Rare Diseases at Sanford (CoRDS) Registry CoRDS is a centralized international patient registry for all rare diseases. The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases. Global Prader-Willi Syndrome Registry Prader-Willi syndrome (PWS) is a rare disorder present at birth that results in a number of physical, mental and behavioral problems. The purpose of the registry is to develop a database of individuals with PWS to better understand the disease’s characteristics, speed the completion of clinical trials, and determine areas of needed research and treatments. International Pachyonychia Congenita Research Registry (IPCRR) Pachyonychia congenita is an ultra-rare genetic disorder that causes skin cells to be extremely fragile. Patients in the IPCRR are helping physicians and scientists discover more about the disease and develop treatments. International Plastic Bronchitis Registry The International Plastic Bronchitis Registry contains clinical and demographic data on patients with serve airway disease, also called plastic bronchitis. This research has led to new understanding of related disorders, specifically near-fatal asthma. Intracranial Hypertension Registry The Intracranial Hypertension Research Foundation supports medical research on chronic intracranial hypertension, a neurological disorder in which cerebrospinal fluid pressure within the skull is too high. The registry is designed to identify causes and potential treatments of the disorder. North American Malignant Hyperthermia Registry of MHAUS Malignant hyperthermia is a rare, life-threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia. The registry's goal is to acquire, analyze and disseminate case-specific clinical and laboratory information related to malignant hyperthermia risk. Wolfram Syndrome International Registry Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes, withering of the optic nerve, and the progressive loss of neuron structure and function. Patients in the registry help physicians and scientists explore the disease’s characteristics and develop treatments. | ||||||||
| 3602 | GRDR® in Action | The goal of the NIH/NCATS Global Rare Diseases Patient Registry Data Repository/GRDR® program is to build a Web-based resource that integrates, secures and stores de-identified patient information from many different registries for rare diseases, all in one place. Read the latest news about this program below. August 2015 NCATS and Harvard Collaborate to Advance Global Rare Diseases Data Repository NCATS awarded a supplemental grant to the Harvard Medical School’s Department of Biomedical Informatics (DBMI) to further develop the GRDR. The DBMI efforts will build in part on NIH’s Big Data to Knowledge and related initiatives. September 2014 Patient Registries and The NIH/NCATS GRDR Program - An Interview with Yaffa Rubinstein Rare Disease Report interviewed GRDR’s Yaffa Rubinstein, Ph.D., who explained the importance of the program in advancing knowledge about rare diseases. |
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