Rare Disease Drug Development

Over 350 million people in the world have one of more than 7,000 rare diseases. In the United States a rare disease is defined as one affecting fewer than 200,000 people. The Orphan Drug Act in the U.S., and similar laws in other countries, have created incentives for companies to develop treatments for these “orphan diseases,” because no drug companies were interested in developing treatments for such small populations of patients. Today, many new drug targets have been identified and new products are in development.

Nonetheless, only about 600 or 10% of rare diseases have an FDA-approved treatment available, and drug development is frequently slowed by the low numbers of patients and limited understanding of the variability and progression of each disease.  This means that the design of clinical trials that can reliably evaluate the efficacy and safety of a potential therapy is challenging. Developing a clear understanding of how each disease progresses, as measured by defined outcome measures and/or biomarkers, would allow development of clinical trial protocols that could efficiently determine if a new therapeutic was effective or not. This would accelerate clinical development, make it less expensive, and encourage new companies to develop rare disease drugs.

A New Data and Analytics Platform

The Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP®) is an FDA-funded initiative that provides a centralized and standardized infrastructure to support and accelerate rare disease characterization, with the goal of accelerating therapy development across rare diseases. This platform is made possible through a collaborative grant from the FDA [Critical Path Public-Private Partnerships Grant Number U18 FD005320 from the U.S. Food and Drug Administration].

RDCA-DAP promotes the sharing of existing patient-level data and encourages the standardization of new data collection. By integrating such data in a regulatory-grade format suitable for analytics, RDCA-DAP accelerates the understanding of disease progression (including sources of variability to optimize the characterization of subpopulations), clinical outcome measures and biomarkers, and facilitates the development of mathematical models of disease and innovative clinical trial designs. RDCA-DAP is positioned to generate solutions to drug development bottlenecks. As such, the utility of the patient-level data is maximized and data may be used to develop tools that will be accessible to the community in order to optimize and accelerate drug development across rare diseases.

How RDCA-DAP Works

RDCA-DAP houses integrated patient-level data from diverse sources, including clinical trials, longitudinal observational studies, patient registries and real-world data (e.g. electronic health records) across a multitude of rare diseases. Data are contributed from different organizations and companies around the world. C-Path has extensive experience in building such integrated databases for many diseases, including existing rare disease databases (in Duchenne muscular dystrophy, Huntington’s disease, Friedreich’s ataxia and polycystic kidney disease). C-Path has partnered with the National Organization for Rare Disorders (NORD) to leverage its IAMRARE® registry platform and extensive expertise to help identify data contributors and establish contacts with the contributing organizations. C-Path will negotiate data contribution and use agreements to allow patient-level data to be transferred to the RDCA-DAP, standardize and integrate the data with other contributed data, and make it available to the degree agreed to by the data contributors.

For questions or additional information about participating in RDCA-DAP, please email rdcadap@c-path.org.

If you’re a patient or a patient organization looking to start a registry, visit https://rarediseases.org/rdca-dap/.

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Critical Path Institute is supported by the Food and Drug Administration (FDA) of the Department of Health and Human Services (HHS) and is 55% funded by the FDA/HHS, totaling $17,612,250, and 45% funded by non-government source(s), totaling $14,203,111. The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement by, FDA/HHS or the U.S. Government.