Global Data Standards Being Developed for Rare Disease Research

Global data standards for conducting research on rare diseases, such as Lambert-Eaton myasthenic syndrome (LEMS), are being developed by a new partnership between the Clinical Data Interchange Standards Consortium (CDISC) and the National Organization for Rare Disorders (NORD).

Rare disorders in the U.S. are defined as those affecting fewer than 200,000 people. An estimated 25 million to 30 million Americans live with a rare disease. On a global scale, around 350 million people are thought to be living with a rare disorder.

“We are grateful for the opportunity to work with NORD on this much-needed initiative,” Dave Evans, president and CEO of CDISC, said in a press release. “NORD’s support and partnership will allow CDISC to develop standards that facilitate more powerful research, enabling the discovery of new treatments to help patients.”

Once completed, data standards will be made freely available on CDISC’s webpage, where researchers will be able to access and use them to improve their studies. CDISC has developed similar therapeutic area user guides for more than 40 disease areas so far.

LEMS is a rare autoimmune disorder that mainly affects muscles in the lower limbs. Patients produce antibodies that wrongly target and attack calcium channels found on the nerves that control muscle movements, limiting their ability to contract the affected muscles.

LEMS therapy is an active area of research, as the condition currently lacks a cure. Several treatments exist to help manage symptoms and improve patients’ quality of life, although options are limited.

Stringent and widely-accepted data standards can help make LEMS research efforts, as well as those for other rare diseases, more efficient and productive by making all relevant data on the disorder more easily accessible, reusable, and exchangeable.

Data standards developed by CDISC have been required by the U.S. Food and Drug Administration and Japan’s Pharmaceuticals and Medical Devices Agency, and recommended by the China National Medical Products Administration. Several of the world’s leading research organizations have also adopted these standards.

“We have seen through NORD’s IAMRARE registry platform the immense value of patient-powered research to serve as a catalyst for the development of rare disease treatments,” said Pamela Gavin, executive vice-president and chief operating officer of NORD.

“We believe that by partnering with CDISC, we can help set global data standards that will lead to greater participation in research and fuel a new era of patient-centered innovation,” she added.