National Organization for Rare Disorders Launches Natural History Study for Undiagnosed Rare Diseases

WASHINGTON, Feb. 28, 2020 /PRNewswire/ -- 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.

About the National Organization for Rare Disorders (NORD)®

The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseases. NORD is committed to the identification, treatment and cure of more than 7,000 rare diseases, of which approximately 90% are still without an FDA-approved treatment or therapy. Rare diseases affect over 25 million Americans. More than half of those affected are children.

NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 35 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research and providing patient and family services for those who need them most. NORD is made strong together with over 300 disease-specific member organizations and their communities and collaborates with many other organizations on specific causes of importance to the rare disease patient community. Visit rarediseases.org.        

SOURCE National Organization for Rare Disorders (NORD)