Feb. 28, 2020
Posted by Valaree DonFrancesco
Washington, DC, February 28, 2020—The National Organization for Rare Disorders (NORD)®, the leading independent nonprofit organization representing over 25 million Americans with rare diseases, today launched the Undiagnosed Rare Disease Registry, a new study to collect de-identified information about hard-to-solve medical cases that will enable researchers to perform analyses at a scale previously not possible.
“With the Undiagnosed Rare Disease Registry, our goal is to provide a bird’s eye view of the undiagnosed landscape so we can better support patients and aid the development of improved diagnostic methods and treatments,” said NORD President and CEO, Peter L. Saltonstall. “One of NORD’s most impactful contributions to research has been building infrastructure that serves the needs of the entire rare disease community and this is an innovative, important step for our undiagnosed patients.”
An undiagnosed disease is a medical condition without a known cause despite a lot of evaluation, according to the National Institutes of Health. One in 10 Americans lives with a rare or undiagnosed medical condition. Individuals seeking a rare disease diagnosis face a variety of known barriers including fractured medical records, limited availability of medical specialists, lack of disease-specific information and available treatments, and financial burden.
The Undiagnosed Rare Disease Registry consists of electronic surveys to collect information about the patient experience and disease progression over time. Patients, or their caregivers or guardians, can enter information from any location in the world. The data is made anonymous and stored securely in an online portal called a registry. Study data may be shared with individuals or institutions conducting research, as approved by the study’s governing board that includes scientists, doctors and patient advocates. The Undiagnosed Rare Disease Registry is part of NORD’s patient-powered IAMRARE™ natural history study platform.
Saltonstall added, “Patient-powered natural history studies can transform how patients and caregivers inform and shape medical research and translational science. We hope by studying the diagnostic odyssey in real-time we can identify obstacles and solutions with near-immediate benefits to patients.”
To help drive awareness and participation, NORD will engage with members of the rare disease community including patients, physicians and researchers via the media and social networks. The launch coincides with NORD’s event at the International Spy Museum for Rare Disease Day® on February 29, where the patient advocacy group plans to feature stories of rare disease patients who solved their medical mysteries to uncover a rare disease diagnosis.
For more information, visit undiagnosed.iamrare.org.
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