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| 167 | About the RDCRN | The Rare Diseases Clinical Research Network (RDCRN) program advances medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. Through the network, scientists from multiple disciplines at hundreds of clinical sites around the world work together with patients and patient advocacy groups to study more than 280 rare diseases. The RDCRN is designed to promote highly collaborative, multi-site, patient-centric, translational and clinical research. The Rare Diseases Clinical Research Consortia (RDCRCs) focus on unmet clinical trial readiness needs that will move the field of research forward from its current state. The RDCRN facilitates clinical research in rare diseases through support for: Collaborative activities, including multisite longitudinal studies of individuals with rare diseases and/or clinical trials. Career enhancement – encouraging the next generation of rare disease researchers. Pilot and feasibility projects Data management to facilitate high quality data standards, collection, storage and sharing Clinical research support Access to information about rare diseases for basic and clinical researchers, academic and practicing physicians, patients, and the public. The RDCRN was established by the NIH Office of Rare Diseases in 2003 and the program is now coordinated by NCATS. Since its launch, nearly 40,000 patients have been enrolled in network clinical studies. The network is composed of about 2,600 researchers, including scientific program staff from NCATS and collaborating NIH components, academic investigators, and members of 130 patient advocacy groups. Current Consortia The RDCRN consists of 20 distinct clinical research consortia with a Data Management and Coordinating Center. View descriptions of the current RDCRN consortia. RDCRN Clinical Trials RDCRN consortia support a broad range of clinical research, including clinical trials. However, NCATS' authorization (PDF - 133.5KB) limits specific support for clinical trials through pilot projects and within training programs to trials only through the end of Phase IIA. Phase II clinical trials are designed to test drugs for efficacy (or effectiveness) and side effects in a limited number of patients. Phase IIA trials provide data for exposure-response in patients, while Phase IIB trials provide data for dose-ranging in patients. A Collaborative Environment Funding and scientific oversight for the RDCRN are provided by NCATS and 9 other NIH entities: the Eunice Kennedy Shriver National Institute of Child Health and Human Development; the National Heart, Lung and Blood Institute; the National Institute of Allergy and Infectious Diseases; the National Institute of Arthritis and Musculoskeletal and Skin Diseases; the National Institute of Dental and Craniofacial Research; the National Institute of Diabetes and Digestive and Kidney Diseases; the National Institute of Mental Health; the National Institute of Neurological Disorders and Stroke; and the Office of Dietary Supplements. In addition, patient advocacy organizations may contribute funding. | ||||||||
| 166 | ADST Team | Full-Time Staff James Inglese, Ph.D., director Patricia K. Dranchak, Ph.D. Mahesh Aitha, Ph.D. Postdoctoral Fellows Travis Kinder, Ph.D., Cure JM (Juvenile Myositis) Foundation Fellow Di Wu, Ph.D., Global Foundation for Peroxisomal Disorders Foundation Fellow Post-Baccalaureate Trainees & Summer Students Rebecca Manubag, M.S. Liza Kanter Visiting Fellows & Guest Scientists Thomas Miller, Ph.D., Paradigm Shift Therapeutics Joseph Hacia, Ph.D., University of Southern California Nathan Baird, Ph.D., University of the Sciences Charles Hoffman, Ph.D., Boston College Bryan Queme, Boston University Affiliated Postdoctoral Fellows Hans Solinski, Ph.D., National Institute of Dental and Craniofacial Research, NIH Delphine Lissa, Ph.D., National Cancer Institute, NIH Past Trainees Postdoctoral Fellows & Trainees Michael Iannotti, Ph.D., (2015-2017), Alpha-1 Foundation Fellow Brittany Wright Schuck, Ph.D., (2014-2017), Charcot-Marie-Tooth Association (CMTA) Fellow Melissa Mendez, Ph.D., (2013-2016), Hanna’s Hope Fund Fellow Adam Fogel, Ph.D., (2013-2015), Michael J. Fox Foundation Fellow Sung-Wook Jang, Ph.D., (2009-2013) CMTA Fellow Ken Chi-Chen Cheng, Ph.D., (2009-2014), NCATS Chemical Genomics Center (NCGC) Postdoctoral Trainee Natasha G. Thorne, Ph.D., (2008-2010), NCGC Postdoctoral Trainee Affiliated Postdoctoral Trainees Catherine Nezich, Ph.D., (2015-2016), co-mentored with Richard Youle, Ph.D., National Institute of Neurological Disorders and Stroke (NINDS), NIH John Fuller, Ph.D., (2010-2016), co-mentored with Don Zack, M.D., Ph.D., Johns Hopkins University Raffaello Verardi, Ph.D., (2014-2016), co-mentored with Banerjee Anirban, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH Nathan Baird, Ph.D., (2013-2014), co-mentored with Adrian Ferré-D’Amaré, Ph.D., National Heart, Lung and Blood Institute, NIH Samuel A. Hasson, Ph.D., (2010-2013), co-mentored with Richard Youle, Ph.D., NINDS, NIH Post-Baccalaureate Trainees and Summer Students Bryan Queme (summer 2018) Isabelle Leibler (2017-2018) Erin Oliphant (2015-2017) Kayla Gross (summer 2012) | ||||||||
| 165 | ADST Scientific Capabilities | ADST program experts have a documented track record of developing entry-point high-throughput screening assays as well as secondary assays using state-of-the-art tools, technologies, platforms and chemical libraries. ADST program capabilities include: Development of assay design concepts. Proof-of-concept testing. Concentration response-based chemogenomic profiling for high-confidence primary data sets. Collaborative assembly of preliminary high-throughput screening assay validation studies. Learn more about the ADST program’s available resources and expertise. | ||||||||
| 164 | ADST in Action | August 2021NCATS Researchers’ New Approach to Measure Gene Activity Could Speed the Search for Rare Disease TherapiesNCATS scientists design an innovative test to find potential treatments for Charcot-Marie-Tooth disease (CMT), one of the most common inherited neurological diseases.October 2020NCATS Team’s Rapid Test Finds Promising Therapies for MyositisThe incidence of myositis, a rare muscle disease with no effective treatments, is increasing in the United States. NCATS researchers screened thousands of compounds and drugs and discovered several promising options that were almost 100 percent effective at blocking the inflammatory pathway associated with myositis.July 2019An Itch to Scratch: NCATS, NIDCR Scientists Identify Potential New Approach to Chronic ProblemFew effective therapies exist for chronic itch, but blocking a receptor found on spinal cord neurons could be the key. A team from the National Institute of Dental and Craniofacial Research identified a receptor on mice neurons for a protein associated with itch, and NCATS researchers screened compounds in human cells and identified candidates for blocking the receptor.May 2019New Method Could Help Find Potential Treatments for Rare DiseasesScientists in NCATS’ Assay Development and Screening Technology program are developing new methods for screening small molecules that could help researchers test possible drugs and develop new treatments for many diseases. | NCATS’ ADST program is advancing the process of drug development with innovations in assay designs and screening methods. | /sites/default/files/adst-capabilities_900x400.jpeg | ADST in Action | NCATS’ ADST program is advancing the process of drug development with innovations in assay designs and screening methods. | /sites/default/files/adst-capabilities_900x400_0.jpeg | ADST in Action | ||
| 163 | ADST Operational Model | A major part of ADST work involves collaborations with disease foundations. This approach expands on a collaborative model that began in 2008 with the Charcot-Marie-Tooth Association (CMTA). In that agreement, a foundation-supported postdoctoral investigator pursued assay development for a specific subtype of CMT. Since then, ADST program staff have expanded the model to include work on additional CMT subtypes as well as replicated the model with three other disease foundations: Hannah’s Hope Fund, The Alpha 1 Project and the Michael J. Fox Foundation for Parkinson’s Research. Postdoctoral Recruitment and Training Within ADST’s “project champion” model, the sponsoring foundation’s scientific advisory board and NCATS evaluate and select postdoctoral candidates, who then commit to a two- to three-year residency with the possibility of extension beyond the original term. Project Support The primary mechanism of funding for ADST projects is through conditional gifts to NIH. Learn more about contributing to NCATS-funded research. Collaborative Project Execution ADST program staff work with disease foundations to establish specific projects for a dedicated postdoctoral researcher. These collaborative arrangements involve: Establishing an agreement on assay design concepts. Exchange of reagents. Regular conference calls and face-to-face meetings with foundation scientists to review data and obtain feedback on progress. Learn more about ADST projects. | ||||||||
| 162 | ADST Program Goals | The goal of the ADST program is to advance the process of therapeutic development through research and development of innovative assay designs and chemical library screening methods in the context of disease biology. The program’s primary focus is on “gateway translation,” which involves bridging the gap between breakthroughs in understanding disease mechanisms and the first stages of drug development. This phase of discovery research is particularly important to disease advocacy organizations seeking to pursue therapeutic development for patients. The ADST program model is designed to overcome translational barriers in developing urgently needed treatments for underserved diseases. Program Objectives Forge collaborative relationships with disease foundations, NIH-funded intramural and extramural investigators, international consortia, and the biopharmaceutical industry to devise strategies for early-stage translation and drug discovery. Conduct methods development research to advance the efficiency of assays and screening, including: Using disease knowledge and advances in molecular biology to develop assays that reproduce inherited mutations. Formulating analysis and progression methods for evaluating approved drugs and investigational compounds. Developing interrogation methods for complex chemical libraries. Provide training, grant support and outreach to strengthen translational research skills in new and established investigators, including: Offering unique postdoctoral training opportunities affiliated with disease foundations. Supplying data packages for grant application support. Conducting outreach to university colloquia and advisory and review panels. | ||||||||
| 161 | About ADST | One of the first steps in the drug development process is creating test systems — called assays — on which researchers assess the effects of chemical compounds on cellular, molecular or biochemical processes of interest. At NCATS, the experts in the Assay Development and Screening Technology (ADST) program work to optimize assays requested or submitted by the biomedical research community for high-throughput small-molecule screening. Learn more about the scientific capabilities available through the ADST program. High-throughput screening uses robotics, data processing and control software, liquid-handling devices, and sensitive detectors to enable scientists to quickly conduct millions of chemical, genetic or pharmacological tests. The results of these screens, called probes, can be used to further explore protein and cell functions and biological processes relevant to human health and disease. In addition, these probes can be developed further to become potential therapeutic candidates in the drug development pipeline. Learn more about the goals of the ADST program. NCATS experts pursue innovations in assay technology to expand understanding of diseases and possible treatment targets. The program’s scientists do much of this work in the context of collaborative relationships with disease foundations. These agreements involve foundation support for postdoctoral researchers to work in the ADST laboratory developing assays and conducting screens. Learn more about ADST projects. | ||||||||
| 160 | 2013 ExRNA Projects: Biomarkers | NCATS is administering 18 of the 24 ExRNA Communication projects awarded in 2013. Investigators on 10 of those projects are developing biomarkers from exRNA found in body fluids. Researchers could use these biomarkers to diagnose a variety of diseases and conditions and to predict the course of disease in patients. Specifically, these scientists are exploring biomarkers for Alzheimer’s disease; multiple sclerosis; kidney disease; brain injury; pregnancy complications; heart disease, heart attack and stroke; and liver, stomach and brain cancers. Circulating MicroRNAs as Disease Biomarkers in Multiple Sclerosis Clinical Utility of Extracellular RNA as Marker of Kidney Disease Progression Clinical Utility of MicroRNAs as Diagnostic Biomarkers of Alzheimer’s Disease Clinical Utility of Salivary ExRNA Biomarkers for Gastric Cancer Detection ExRNA Biomarkers for Human Glioma ExRNA Signatures Predict Outcomes After Brain Injury ExRNAs for Early Identification of Pregnancies at Risk for Placental Dysfunction Extracellular Non-Coding RNA Biomarkers of Hepatocellular Cancer Extracellular RNAs: Biomarkers for Cardiovascular Risk and Disease Plasma MiRNA Predictors of Adverse Mechanical and Electrical Remodeling After Myocardial Infarction Circulating MicroRNAs as Disease Biomarkers in Multiple Sclerosis Investigator: Howard L. Weiner, M.D., Brigham and Women’s Hospital, Boston Grant Number: UH2-TR000890 Multiple sclerosis (MS) is a disease in which the body’s immune system attacks and destroys the protective covering of the nerves. Over time, the brain, spinal cord and the rest of the body lose the ability to communicate with each other. Many people with MS eventually lose the ability to walk or speak clearly. MS affects 2.5 million people worldwide, including 400,000 in the United States. Currently, no cure exists, but some treatments can slow the disease. A better understanding of the biology and progression of MS could lead to better treatments or a cure. This study team previously measured a type of exRNA called microRNA (miRNA) in the blood of patients with MS and found it was related to disease stage, response to therapy and level of disability. This project’s investigators will continue to study these biomarkers, or indicators of the presence, absence or stage of a disease, and assess their usefulness in diagnosing and monitoring MS progression and response to therapy. MiRNA biomarkers for MS may provide a new way for clinicians to better understand the nature of the disease in individual patients. Learn more about this project in the NIH RePORTER. Clinical Utility of Extracellular RNA as Marker of Kidney Disease Progression Investigators: Thomas Tuschl, Ph.D., The Rockefeller University, New York, and Manikkam Suthanthiran, M.D., Weill Cornell Medical College, New York Grant Number: UH2-TR000933 Chronic kidney disease (CKD) is a condition in which the kidneys partly or completely lose their ability to function and can result from high blood pressure, diabetes, disorders of the immune system, genetic defects and developmental disorders. CKD causes early death from heart disease, infections and cancer. Many CKD patients develop end-stage kidney disease and need dialysis or kidney transplants. Recipients of kidney transplants also are prone to CKD. Current tests cannot predict which patients will have CKD that worsens over time. Identifying CKD patients at risk for disease progression could allow clinicians to treat patients earlier and slow further decline in kidney function. It also could help scientists develop therapies that prevent decline in kidney function in patients at risk. This research team will identify types of exRNA in the urine of CKD patients and will determine if this approach can identify patients at risk for worsening disease. The teams plans to use these findings to develop a urine test that clinicians can use to guide treatment of CKD patients. Learn more about this project in the NIH RePORTER. Clinical Utility of MicroRNAs as Diagnostic Biomarkers of Alzheimer’s Disease Investigators: Julie Anne Saugstad, Ph.D., and Joseph M. Quinn, M.D., Oregon Health and Science University, Portland Grant Number: UH2-TR000903 Alzheimer’s disease (AD) is the most common form of dementia and is the sixth leading cause of death in the United States. AD symptoms include memory loss, personality changes and trouble thinking, and the disease typically worsens over time. Current AD treatments cannot stop the disease from progressing, but they can slow the development of symptoms temporarily. Currently, clinicians diagnose AD by noting the degree of a patient’s mental decline, which is not obvious until severe and permanent brain damage has occurred. No biomarkers exist that can be used to predict the onset of AD or distinguish early AD from age-related memory loss. ExRNA could have a potentially important role as a diagnostic biomarker for AD. This project team will examine miRNA found in the fluid surrounding the brain and spinal cord for its usefulness as a biomarker to diagnose AD earlier. Earlier diagnosis could allow patients to start treatments sooner, possibly slowing or preventing brain function decline and damage. Learn more about this project in the NIH RePORTER. Clinical Utility of Salivary ExRNA Biomarkers for Gastric Cancer Detection Investigator: David T.W. Wong, D.M.D., D.M.Sc., University of California, Los Angeles Grant Number: UH2-TR000923 Gastric (stomach) cancer kills about 800,000 people worldwide each year. This cancer is quite deadly because most people do not notice symptoms until the disease has advanced. Studies suggest that exRNA in saliva can be used as a biomarker to detect oral cancer, Sjögren’s syndrome (a disease in which immune cells attack and destroy the glands that produce tears and saliva), pancreatic cancer, breast cancer, lung cancer, and ovarian cancer. This project team will study exRNA in saliva to determine its usefulness as a biomarker to detect gastric cancer. The study will compare exRNA in saliva from people with and without gastric cancer to assess which types of exRNA are specific to gastric cancer. The use of exRNA in saliva as a biomarker of gastric cancer could enable clinicians to perform simple tests to detect and treat gastric cancer at earlier stages. Learn more about this project in the NIH RePORTER. ExRNA Biomarkers for Human Glioma Investigators: Bob S. Carter, M.D., Ph.D., University of California, San Diego, and Fred Hochberg, M.D., Massachusetts General Hospital, Boston Grant Number: UH2-TR000931 Gliomas are the most common type of brain tumor, and they are hard to diagnose and treat. Surgeons use biopsies — samples of cells or tissues — to diagnose brain tumors. These biopsies are risky for patients because they require removal of tissue from parts of the brain that are important for language or movement. A way to diagnose brain tumors without surgery would improve patients’ quality of life and reduce risk of brain damage. The investigators will analyze the exRNA that brain tumors release into blood or the fluid surrounding the brain and spinal cord. Using state-of-the-art technologies for examining exRNA, this research team will develop new tests for diagnosing tumors without surgery. If successful, this research could lead to a safer form of diagnosis and earlier, more effective treatment of brain tumors. Findings from this research also could be used to improve scientists’ understanding of how patients respond to brain tumor treatments. Learn more about this project in the NIH RePORTER. ExRNA Signatures Predict Outcomes After Brain Injury Investigators: Matthew J. Huentelman, Ph.D., Translational Genomics Research Institute, Phoenix, P. David Adelson, M.D., Phoenix Children’s Hospital, and Robert Spetzler, M.D., St. Joseph’s Hospital and Medical Center, Phoenix Grant Number: UH2-TR000891 At least 1.7 million traumatic brain injuries (TBIs) occur each year in the United States, and an estimated 5.3 million people live with TBI-related disability. TBIs cost the nation approximately $76.5 billion each year in medical care, rehabilitation and lost productivity. Hemorrhagic strokes — which occur when a blood vessel bursts in the brain and blood accumulates and compresses the surrounding brain tissue — can cause rare but devastating types of TBIs. Scientists still do not fully understand what goes wrong in the brain during and after these strokes. A biomarker to detect patients at risk for poor outcomes following hemorrhagic stroke could lead to better treatments while improving understanding of the biology of the disease. Certain types of exRNA may be used as biomarkers to predict how patients will respond after hemorrhagic stroke. The investigators will identify exRNA biomarkers that can indicate presence of injury and predict a patient’s outcome after stroke. Ultimately, this research could allow for better treatments and outcomes in hemorrhagic stroke patients. Learn more about this project in the NIH RePORTER. ExRNAs for Early Identification of Pregnancies at Risk for Placental Dysfunction Investigator: Louise C. Laurent, M.D., Ph.D., University of California, San Diego Grant Number: UH2-TR000906 Placental dysfunction occurs when too little blood, carrying oxygen and nutrients, flows from the mother to the fetus in the womb. The condition can cause poor growth of the fetus and dangerously high blood pressure in the mother during pregnancy. Placental dysfunction is a major cause of maternal and fetal disability and death worldwide. Scientists believe that abnormal cell growth and activity in the placenta during the first trimester of pregnancy causes placental dysfunction. However, clinicians usually do not detect placental dysfunction until the late second and third trimesters. Early detection of pregnancies at risk for this disorder would help clinicians prevent or better treat it. This project’s investigators aim to develop such a method by examining whether exRNA in the blood could be used as a biomarker of risk for placental dysfunction. Accurately determining a woman’s risk would enable clinicians to identify high-risk patients so that high blood pressure or poor growth of the fetus can be detected earlier while sparing low-risk patients unnecessary anxiety. Learn more about this project in the NIH RePORTER. Extracellular Non-Coding RNA Biomarkers of Hepatocellular Cancer Investigator: Tushar Patel, M.B., Ch.B., Mayo Clinic, Jacksonville, Florida Grant Number: UH2-TR000884 Hepatocellular carcinoma (HCC) — the most common type of liver cancer — is becoming more prevalent, yet survival remains poor. The earlier HCC is diagnosed, the better a patient’s chance for survival. Unfortunately, current tests for HCC are not very good at detecting the cancer early enough for clinicians to treat it effectively. HCC cells release several types of exRNA within exosomes, tiny particles produced by most cells that carry exRNA through body fluids. This project is designed to determine if this exRNA can be used as a biomarker to indicate the presence of HCC in a patient. The investigator also aims to develop a clinically useful way to detect and measure these potential biomarkers and determine their usefulness in identifying patients with HCC earlier than current methods allow. Learn more about this project in the NIH RePORTER. Extracellular RNAs: Biomarkers for Cardiovascular Risk and Disease Investigator: Jane E. Freedman, M.D., University of Massachusetts Medical School, Worcester Grant Number: UH2-TR000921 Cardiovascular disease (CVD) is the leading cause of death in the United States. Heart disease and stroke, the most common forms of CVD, have common risk factors, including high blood pressure, diabetes, obesity, cigarette smoking and high cholesterol. Certain types of exRNA in the blood affect development and progression of CVD. Researchers have found connections between some of this exRNA and specific forms of CVD. The amounts and types of exRNA may change over time or due to the presence of certain CVD risk factors. Different types of this exRNA could be useful as biomarkers to predict CVD events. To test this possibility, the project team will use blood samples to look for links between exRNA and the presence of CVD. The investigators ultimately will attempt to develop a quick and effective blood test for CVD and its risk factors, using exRNA as a biomarker. Learn more about this project in the NIH RePORTER. Plasma MiRNA Predictors of Adverse Mechanical and Electrical Remodeling After Myocardial Infarction Investigators: Saumya Das, M.D., Ph.D., and Anthony Rosenzweig, M.D., Beth Israel Deaconess Medical Center, Boston; Raymond Y. Kwong, M.D., M.P.H., and Marc Sabatine, M.D., M.P.H., Brigham and Women’s Hospital, Boston Grant Number: UH2-TR000901 Each year, complications from heart attacks (also called myocardial infarctions) contribute to more than half a million cases of heart failure and 300,000 cases of sudden cardiac arrest, which occurs when the heart stops suddenly. Both of these conditions are closely related to changes in the structure and function of the heart — called remodeling — that follow a heart attack. Current tests to predict which patients are at risk for these complications are not accurate enough. This team of investigators will (1) identify miRNA that is related to poor heart remodeling, (2) test the ability of this miRNA to predict poor remodeling in animal models of heart disease, and (3) assess whether miRNA can predict which patients are at risk for poor health outcomes after heart attacks. This miRNA could replace current tests by more accurately identifying patients at higher risk and in need of more frequent monitoring and medical care. Learn more about this project in the NIH RePORTER. Descriptions are distilled from grant application abstracts. | ||||||||
| 159 | REDCap | Research Electronic Data Capture (REDCap) is an easy-to-use, free software tool for clinical study management and data capture. Originally designed to support data capture for research studies, this secure Web application has been expanded to provide investigators with the ability to create standardized surveys, easily transfer data and export data into a variety of statistical programs. With these new features, users can quickly and securely build and manage online surveys and databases. The software, which was developed and supported by NCATS’ Clinical and Translational Science Awards (CTSA) Program and CTSA consortium, already has been adopted at many medical research institutions. The REDCap website offers access to download the software, a list of organizations using the tool, and video tutorials for clinical trials. | ||||||||
| 158 | ResearchMatch | ResearchMatch.org was launched to improve clinical trial recruitment. Supported by NCATS’ Clinical and Translational Science Awards (CTSA) Program, the site provides a way to connect people who are trying to find research studies with researchers who are seeking people to participate in their studies. ResearchMatch is a free, secure registry, making it easier for the public to volunteer and to become involved in clinical research studies that contribute to improved human health. The tool is expected to reduce recruitment costs, increase enrollment and speed research progress. By sharing this tool, the CTSA consortium helps scientists around the country move their research advances more quickly from the laboratory to human trials and, ultimately, to patients. |
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