NORD Launches Natural History Study for Undiagnosed Rare Diseases

Rare Daily Staff

The National Organization for Rare Disorders has launched the Undiagnosed Rare Disease Registry, a new study to collect de-identified information about hard-to-solve medical cases.

NORD said the study 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 Peter Saltonstall, NORD president and CEO. 

An undiagnosed disease is a medical condition without a known cause despite a lot of evaluation, according to the National Institutes of Health. 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.

“Patient-powered natural history studies can transform how patients and caregivers inform and shape medical research and translational science,” Saltonstall said. “We hope by studying the diagnostic odyssey in real-time we can identify obstacles and solutions with near-immediate benefits to patients.”

Photo: Peter Saltonstall, NORD President and CEO.