Innovations in Therapy Development for Rare Diseases through the Rare Disease Cures Accelerator – Data and Analytics Platform



Poster Number: 105


Alexandre Betourne, PhD, PharmD, Critical Path Institute, Jeff Barrett, PhD, FCP, Critical Path Institute, Suhail Zaveri, Critical Path Institute, Amanda Borens, MSc, Critical Path Institute, Aliza Fink, DSc, NORD, Pamela Gavin, NORD, Michelle Campbelle, PhD, FDA

Progress toward the development of therapies for rare diseases is hampered by a limited biological understanding of most diseases and their progression and challenges in evaluating patients and designing adequate clinical trials. Data that could be used to characterize many diseases is often collected in multiples formats, including electronic health records, patient-report registries, clinical natural history studies, and past clinical trials. However, each data source contains a limited number of subjects, different data elements, and data is frequently kept proprietary in the hands of the study sponsor. The Rare Disease Cures Accelerator – Data and Analytics Platform (RDCA-DAP) is an FDA-funded effort to overcome these persistent challenges. By aggregating data across all rare diseases and making that data available to the community to support understanding of rare diseases and inform drug development, RDCA-DAP aims to accelerate the regulatory approval of new therapies. RDCA-DAP curates, standardizes, and tags data across datasets to make it findable within the database, and contains a built-in analytics platform to help visualize, interpret, and use it to support drug development. RDCA-DAP coordinates data and tool resources to serve a diverse array of rare disease stakeholders that includes academic researchers, drug developers, regulatory reviewers and patients and their caregivers. The platform currently holds datasets for several muscular and neuromuscular disorders (DMD, GNE myopathy, RYR1 myopathy, SMARD1, etc.) and the RDCA-DAP team continues to expand and diversify the database. RDCA-DAP is currently developing data-driven solutions for several rare diseases, which will be discussed at the meeting. The team encourages muscular and neuromuscular disorders communities to utilize the RDCA-DAP platform to develop solutions on their own and/or through collaboration with our program. Platform access: