Director's Message
For people living with a rare disease called a lysosomal storage disorder, a tiny mistake in their DNA leads to big problems on the cellular level. Fatty materials called lipids build up in their cells and tissues, and those deposits can damage the brain, nerves, liver and other organs. Most of the 50 or so diseases in this group — which primarily affect children — have no treatment. A key NCATS focus is finding new ways to understand and develop therapeutics for rare diseases, and now new hope is on the horizon for young people living with the lysosomal storage disorder Niemann-Pick disease type C1 (NPC). Based on the collaborative work of a team including NCATS and other NIH researchers, patient advocacy groups, academic scientists, and a biotechnology company, a promising new treatment for NPC will continue to advance through clinical testing.
Read more in the latest Director's Message.
Christopher P. Austin, M.D.
What's New at NCATS?
Treatments for Rare Lipid Storage Disorders Advance to Next Stage
NCATS Announces Tox21 Data Challenge Winners
NCATS Holds January Council and CAN Review Board Meeting
Participate in Rare Disease Day at NIH
SBIR/STTR Standard Application Deadlines Have Changed
Maximizing the Impact of CTSA-Funded Research Protocols
NCATS to Issue CTSA Program Funding Opportunities
Collaborate with NCATS Scientists
Treatments for Rare Lipid Storage Disorders Advance to Next Stage
An NIH research team has entered into an agreement with biotechnology company Vtesse, Inc., to advance treatments for Niemann-Pick disease type C (NPC) and other lysosomal storage disorders. These disorders, also known as lipid storage diseases, comprise about 50 rare inherited disorders that primarily affect children; most have no Food and Drug Administration-approved treatment. NCATS and Eunice Kennedy Shriver National Institute of Child Health and Human Development researchers will conduct studies with funding provided by Vtesse.
Patients and their advocates have played a crucial role in NPC research advancements and the development of therapeutic interventions, and some provided funding for related studies. Patient advocacy groups that have had a major impact include the following:
- Addi and Cassi Fund
- Ara Parseghian Medical Research Foundation
- Dana's Angels Research Trust
- Hadley Hope Fund
- Hide & Seek Foundation for Lysosomal Disease Research
- International Niemann-Pick Disease Alliance
- John Paul II Medical Research Institute
- National Niemann-Pick Disease Foundation
- Niemann-Pick Disease Group (UK)
- Support of Accelerated Research for Niemann-Pick Disease Type C
NCATS Announces Tox21 Data Challenge Winners
On Jan. 26, 2015, NCATS announced the winners of the Toxicology in the 21st Century (Tox21) Data Challenge 2014, a crowdsourcing competition that attracted contestants from 18 countries to design computational models to better predict chemical toxicity. Tox21 is a collaborative effort among NCATS, National Institute of Environmental Health Sciences, Environmental Protection Agency and Food and Drug Administration to improve the methods scientists use to evaluate environmental chemicals and develop new medicines. Read the full feature to see the winning teams and learn more about the competition.
NCATS Holds January Council and CAN Review Board Meeting
On Jan. 15, 2015, NCATS held a joint meeting of the NCATS Advisory Council and Cures Acceleration Network (CAN) Review Board at the NIH in Bethesda, Maryland. The meeting featured presentations by NCATS leaders and several others, followed by open discussions among Advisory Council and CAN Review Board members.
NCATS Director Christopher P. Austin, M.D., highlighted the Center's budget- and policy-related activities and several pre-clinical research advances aimed at improving the drug development process. Austin also spoke about NCATS' latest partnerships and collaborations, such as co-hosting an Ebola Medicines Day with the National Institute of Allergy and Infectious Diseases.
Pamela McInnes, D.D.S., M.Sc. (Dent.), NCATS deputy director and acting director of the NCATS Office of Rare Diseases Research, and Rashmi Gopal-Srivastava, Ph.D., NCATS program lead for the Rare Diseases Clinical Research Network (RDCRN), discussed the benefits of using the RDCRN as a model for collaborative rare diseases research with patient advocacy groups. RDCRN consortium member Peter A. Merkel, M.D., M.P.H., of the University of Pennsylvania, shared his perspective as head of the Vasculitis Clinical Research Consortium. In addition, Michele Manion, vice president, executive director and founder of the Primary Ciliary Dyskinesia Foundation, discussed her role as a patient advocate RDCRN research partner.
NCATS Director of Clinical Innovation Petra Kaufmann, M.D., M.Sc., provided an update on the Clinical and Translational Science Awards (CTSA) program. Her presentation included strategic program goals and current consortium-wide projects designed to streamline multisite clinical trials, encourage research participant recruitment and enhance training efforts.
In addition, Frank L. Douglas, Ph.D., M.D., president and CEO of Austen BioInnovation Institute in Akron, Ohio, gave a report from the NCATS Advisory Council Subcommittee on Medical Technologies. Other presenters addressed topics including common themes in translation and coordinating efforts with the National Human Genome Research Institute translational genomics programs.
View the archived meeting videocast.
Participate in Rare Disease Day at NIH
Rare diseases affect an estimated 25 million people in the United States. NIH will host Rare Disease Day on Feb. 27, 2015, to raise awareness about these diseases, the challenges patients face, and the importance of research collaborations.
Sponsored by NCATS and the NIH Clinical Center, the event will take place from 8:30 a.m. to 5:00 p.m. in Masur Auditorium in Building 10 on the NIH campus in Bethesda, Maryland. Participation is complimentary. NIH speakers include NIH Director Francis S. Collins, M.D., Ph.D.; NCATS Director Christopher P. Austin, M.D.; and NIH Clinical Center Director John I. Gallin, M.D. Rare Disease Day features tours; posters and exhibits; and presentations on successful team and community building, the critical role of technology transfer and strategic alliances, and NCATS' Rare Diseases Clinical Research Network advances.
To learn more, visit the event website. View the current agenda. Register now.
SBIR/STTR Standard Application Deadlines Have Changed
To better serve small business community needs, the NIH has changed its Standard Due Dates for SBIR/STTR Omnibus grant applications. These changes will reduce the average amount of time it takes to review and fund successful applications. The most immediate change is that NIH has extended the final 2014 SBIR and STTR Omnibus Solicitation deadline to April 6, 2015. Read the NIH Guide notice about the changes.
Maximizing the Impact of CTSA-Funded Research Protocols
Launching human studies can be complicated and can take many months, and the complex research protocol review process can contribute substantially to delays. In addition to institutional review board review and approval, a Scientific Review Committee (SRC) may evaluate some proposed clinical studies or trials to ensure that the scientific question of interest is relevant and the design of the protocol is appropriate.
To improve the efficiency of SRC reviews and enhance the quality of human subjects research, NCATS is funding a new Clinical and Translational Science Awards (CTSA) program initiative to develop consensus recommendations for SRCs. This guidance will help ensure that ethical and scientific standards are upheld for CTSA-funded protocols and that proposals are aligned with NCATS' focus on translation. Specific aims include maximizing the quality of CTSA investigator-initiated pilot projects and clinical protocols implemented by mentored research scholars as part of their KL2 awards.
Harry Selker, M.D., M.S.P.H., principal investigator (PI) of the Tufts University CTSA hub, is leading the SRC initiative in collaboration with nine CTSA PIs and representatives from two NIH Institutes and Centers. The team will address the following key questions:
- What criteria should the SRC use when reviewing protocols?
- When should the SRC ask for input from outside the institution?
- What should the role of CTSAs be prior to SRC review?
The team already has developed plans for SRC operational processes and procedures, information technology infrastructure, and evaluation (including pilot sites and metrics for assessment). Stay tuned for more information about this and other CTSA program collaborations.
NCATS to Issue CTSA Program Funding Opportunities
On Dec. 23, 2014, NCATS announced the intent to publish new funding opportunities for the Clinical and Translational Science Awards (CTSA) program. Details about each of the opportunities, which the Center plans to issue in early 2015, can be read in the following notices:
NOT-TR-15-001: Trial Innovation Centers: Trial Innovation Centers will support the CTSA consortium by serving as an expert network for the implementation of multisite studies.
NOT-TR-15-003: Recruitment Innovation Centers: Recruitment Innovation Centers will support the CTSA consortium by promoting innovation and efficiency in participant recruitment into multisite studies.
Upcoming Events
February
NCATS Assay Guidance Workshop for High-Throughput Screening and Lead Discovery
On Feb. 6, 2015, NCATS and editors of the Assay Guidance Manual will host a workshop for NIH researchers on assay development for high-throughput screening and lead discovery. The goal is to share knowledge that enables investigators to begin developing a translational project or to better understand and improve an existing project.
Society for Laboratory Automation and Screening (SLAS) 4th Annual Conference & Exhibition
On Feb. 7–11, 2015, SLAS will convene its fourth annual conference in Washington, D.C. Presenters include NIH Director Francis S. Collins, M.D., Ph.D., and NCATS Director Christopher P. Austin, M.D. On February 9, Austin will chair a special conference session titled An Evening with NIH, focused on showcasing NIH's programs, services and capabilities.
Fifth AIMBE/NIH Workshop on Validation and Qualification of New In Vitro Tools and Models for the Pre-clinical Drug Discovery Process
On Feb. 12, 2015, NCATS, the American Institute for Medical and Biological Engineering (AIMBE), and the National Institute of Biomedical Imaging and Bioengineering will host the fifth meeting in a series addressing validation and qualification of new in vitro tools and models for the pre-clinical drug discovery process. The February workshop focuses on drug efficacy; previous meetings have addressed drug toxicity. Registration is free, but space is limited.
NIH will celebrate Rare Disease Day from 8:30 a.m. to 5:00 p.m. on Feb. 27, 2015. Sponsored by NCATS and the NIH Clinical Center, the event is free and open to the public. Register now, view the draft agenda, or join the webcast.
NCATS in the News
- What President Obama's Precision Medicine Initiative Might Include • Xconomy • Jan. 21, 2015
- The Man Who Built Organs on Chips • Cosmos • Jan. 19, 2015
- Salt Intake by Seniors Not Linked to Mortality, Cardiovascular Disease or Heart Failure • Senior Journal • Jan. 19, 2015
- Small Biotech Vtesse Gets Rights to Cyclodextrin • The Wall Street Journal • Jan. 7, 2015
- Spinoff Company to Develop Rare Disease Drugs • The Scientist • Jan. 7, 2015
- NIH Teams with Industry to Develop Treatments for Niemann-Pick Disease Type C • NCATS, NICHD • Jan. 7, 2015
- NIDCD Audiology Unit Enhances Research, Care of Patients with Niemann-Pick C Disease • NIDCD • Jan. 7, 2015
- Can Existing Medications Treat Ebola? • Digital Journal • Jan. 4, 2015
- Researchers Create Artificial Organs on Microchips • NPR • Jan. 2, 2015
- Potential Mitochondrial Toxicants: Tox21 Screen Identifies Chemicals of Interest • Environmental Health Perspectives • Jan. 1, 2015
- Scripps Health Teams with Medical Examiner to Unravel Mysterious Syndrome • La Jolla Light • Dec. 31, 2014
- The Year in Pathogens • The Scientist • Dec. 29, 2014
- Longer Cooling, Lower Temperature No Improvement for Infant Oxygen Deprivation • NICHD, NCATS • Dec. 24, 2014
- Practice Patterns Questioned for Stress Tests, Brain Aneurysm • MedPage Today • Dec. 23, 2014
Collaborate with NCATS Scientists
NCATS researchers are seeking collaborators in the following areas:
NCATS Chemical Genomics Center (NCGC)
NCGC offers biomedical researchers access to large-scale screening capacity along with the medicinal chemistry and informatics expertise necessary to develop chemical probe molecules and to study the functions of genes, cells and biochemical pathways. For inquiries or to obtain NCGC probe molecules, contact Ajit Jadhav.
NCGC researchers also seek collaborators for assay development and high-throughput screening, chemistry and chemistry technology, automation, and informatics. Learn more.
NIH RNA Interference (RNAi) Initiative
The NIH RNAi initiative, administered by NCATS, provides state-of-the-art, high-throughput RNAi genome-wide screens for humans and mice. This resource is available only to NIH researchers. Scientists interested in performing high-throughput RNAi screens can contact Scott Martin, Ph.D., for more information.
Toxicology in the 21st Century (Tox21) Program
The Tox21 program aims to test 10,000 chemicals and evaluate their potential to cause health problems. Any investigator may propose the development of biological assays for high-throughput screening.
To suggest an assay, submit an assay nomination form to Menghang Xia, Ph.D. Proposed assays must be compatible with the high-throughput screening guidelines as described in the assay guidance criteria.