The RDCRN program is designed to advance medical research on rare diseases. It facilitates clinical research in rare diseases. Read the latest news about this program below.
Collaboration Opens Door to Potential Therapies for Children With a Rare Disease
Clinicians historically have focused on treating the symptoms of a rare lung disease called primary ciliary dyskinesia (PCD). A recent study using medical images from children with PCD could help point to new therapeutic candidates for slowing damaging effects linked with the disease. It also can help diagnose this disease sooner. The study was a collaboration among researchers funded through the Genetic Disorders of Mucociliary Clearance Consortium within the Rare Diseases Clinical Research Network (RDCRN) and the Colorado Clinical and Translational Sciences Institute.
Osteogenesis Imperfecta Study Reveals Potential Therapy Approach
RDCRN-funded researchers confirmed a common problem in the way the body forms bone in osteogenesis imperfecta (OI), a hereditary disorder that causes brittle bones and fractures. Bones in people with OI often produce too much of a protein called tumor growth factor (TGF)–beta. As reported in the Journal of Clinical Investigation, the researchers have shown that treating people with moderate OI using fresolimumab, an antibody drug that blocks TGF-beta, could improve their bone mass. Fresolimumab’s maker, Sanofi, has launched a clinical trial to further advance this approach in patients with OI.
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
An online survey launched by the RDCRN aims to find out how the COVID-19 pandemic is impacting individuals with rare diseases, their families and their caregivers. Results will help the rare disease research community shed light on the needs of people with rare diseases during the COVID-19 pandemic.
A Collaborative Approach to Diagnosing Alzheimer’s and Rare Syndromes
NCATS, NIA and NINDS collaborate on the development of a potential blood test that could make diagnosing Alzheimer’s and rare neurodegenerative syndromes easier and faster.
Grants Help Move Promising Rare Disease Interventions to Clinical Trials
To close the gap between development of candidate interventions for rare diseases and clinical testing, NCATS and NICHD created rare-disease Clinical Trial Readiness grants to support projects that collect data needed to advance to clinical trials.
NCATS-Supported Consortium Plays Pivotal Role in New Porphyria Drug
Years of NIH-supported studies contributed to the U.S. Food and Drug Administration approval of a new drug for acute intermittent porphyria—a rare, debilitating condition. The NCATS-supported Porphyrias Consortium played a pivotal role in its development.
NIH Awards Funding to 20 Rare Disease Research Teams
NIH has awarded approximately $31 million to 20 teams to study a wide range of rare diseases and an additional $7 million to support the research efforts. An important focus of the latest group of awards is on clinical trial readiness and preparation.
New Funding Opportunities Available for Collaborative Rare Diseases Research
NCATS has released two new RDCRN funding opportunities to support collaborative clinical research on rare diseases. Applications for Rare Diseases Clinical Research Consortia and a Data Management and Coordinating Center are due by Oct. 9, 2018.
NIH-Supported Scientists Discover New Personalized Approach to Diagnosing and Treating Rare Food Allergy Disease
With RDCRN support, a team of scientists from Cincinnati Children’s Hospital Medical Center and the Consortium of Eosinophilic Gastrointestinal Disease Researchers has developed a new personalized approach to diagnosing and treating a rare food allergy disease called eosinophilic esophagitis.
NIH-Supported Research Helps Advance a Potential Rare Disease Gene-Editing Treatment into Clinical Trials
RDCRN-supported research helps chart how several rare, inherited disorders progress in patients over time. This information facilitated the advance of a potential rare disease gene-editing treatment into clinical trials.
NCATS-Supported Consortium Charts New Course for Rare Immune Diseases
Scientists with an NCATS-supported research consortium are pioneering new studies to better understand and develop therapies for rare immune system disorders. The Primary Immune Deficiency Treatment Consortium conducts natural history studies and other research as part of the NCATS Rare Diseases Clinical Research Network.
Unprecedented Trans-NCATS Collaboration Enables Rapid Advancement of Rare Lung Disease Therapy to Human Trials
aPAP is a rare lung disease with a difficult treatment. With this collaboration, Dr. Trapnell is optimistic that a potentially life-changing treatment is one step closer to benefiting patients.
Breathing Easier: First Treatment for Rare Lung Disease Approved
Research coordinated by The LAM Foundation and carried out with scientific partners in NCATS’ Rare Diseases Clinical Research Network culminated in the first treatment for lymphangioleiomyomatosis (LAM) approved by the Food and Drug Administration.
Patients with Rare Muscle Disorder Benefit from Repurposed Heart Drug
With RDCRN and CTSA Program support, researchers at seven institutions in four countries were able to recruit enough patients with a rare genetic muscle disorder for a clinical trial to test a potential repurposed drug therapy called mexiletine, normally prescribed for heart disorders.