National Rare Disease Registry Launches to Transform Patient Outcomes and Accelerate Therapy Development
BOSTON, Mass. (December 3, 2025) — The Consortium for Rare Disease Research (CRDR) today announced the launch of the National Rare Disease Outcomes and Therapies Registry (N-RDOT), a first-of-its-kind centralized database designed to systematically track treatment outcomes and disease progression across the rare disease spectrum. The initiative, supported by $45 million in initial funding from the National Institutes of Health and private philanthropy, will enroll an estimated 500,000 patients over five years.
The registry addresses an urgent unmet need: despite more than 10,000 rare diseases affecting over 30 million Americans, approximately 95 percent lack FDA-approved treatments, according to recent data from the National Center for Advancing Translational Sciences . Patients endure diagnostic odysseys averaging six to eight years, often receiving no therapy upon diagnosis. N-RDOT will capture longitudinal outcomes data, treatment responses, and real-world evidence to bridge these gaps. The platform leverages the IAMRARE® system, a proven registry infrastructure already deployed for multiple rare disease communities, ensuring compliance with HIPAA and FDA 21 CFR Part 11 requirements for clinical research.
“This registry represents a paradigm shift from disease-specific silos to a collaborative, national framework,” said Dr. Sarah Chen, CRDR’s chief executive officer and former director of the NIH Office of Rare Diseases Research. “By aggregating standardized outcomes data across thousands of conditions, we can identify shared therapeutic targets, accelerate clinical trial recruitment, and establish evidence-based care standards where none currently exist.”
The initiative comes amid unprecedented growth in rare disease therapeutic development. A 2025 analysis identified 436 unique therapies in development for pediatric-onset rare diseases alone, spanning 19 therapy classes including 106 gene therapies and 178 small molecules . However, fragmented data collection has hindered regulatory approval and patient access. N-RDOT will implement uniform endpoints and digital biomarkers, enabling researchers to track safety and efficacy across multiple conditions simultaneously.
Participation is voluntary and open to patients diagnosed with any rare condition, defined as affecting fewer than 200,000 Americans. The registry will integrate with electronic health records at 31 NORD Rare Disease Centers of Excellence and over 200 community-based specialty clinics. Patient advocacy groups, including the EveryLife Foundation and Global Genes, will facilitate enrollment through their networks. Data access will be governed by a transparent request process, with de-identified datasets available to qualified researchers, biopharmaceutical companies developing orphan drugs, and regulatory agencies.
Early pilot data demonstrates the model’s potential. A comparable international registry for Gaucher disease has collected 20 years of follow-up data on 6,500 patients from 700 centers worldwide, generating nearly 30 peer-reviewed publications that established therapeutic goals and informed consensus-based management guidelines. N-RDOT aims to replicate this success across the broader rare disease ecosystem.
Projected impact includes reducing time-to-diagnosis by 30 percent and increasing clinical trial enrollment by 40 percent within five years. The registry will also support post-market surveillance for newly approved gene therapies, addressing long-term safety questions that traditional trials cannot answer. Initial recruitment begins January 2026, with enrollment milestones tracked publicly through a dedicated dashboard.
About the Consortium for Rare Disease Research
The Consortium for Rare Disease Research (CRDR) is a non-profit organization founded in 2023 to accelerate innovation across the rare disease continuum. CRDR convenes patients, clinicians, researchers, and industry partners to build collaborative infrastructure, advance regulatory science, and promote data-sharing standards. The organization manages the N-RDOT registry and provides technical assistance to disease-specific registries nationwide.
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