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Solving the Patient Information Shortage

Experts say rare disease patient registries help bridge the information gap.

Ashley Winslow

University of Pennsylvania’s Dr. Ashley Winslow emphasizes that patient information registries generate important data that can help improve future treatments.

Obtaining data about rare diseases can be a challenge because of the extremely small size of patient populations. According to the U.S. National Institutes of Health (NIH), a disorder that affects fewer than 200,000 people in the U.S. is classified as rare. In the European Union, a disease is defined as rare when it affects fewer than 1 in 2,000 people. 

The shortage of data about rare disorders makes it difficult to diagnose them and impedes the development of new treatments. As a result, patient registries are playing an increasingly important role in helping to bridge the rare disease information gap.

Dr. Ashley Winslow, Senior Director of Translational Research and Portfolio Development at the University of Pennsylvania’s Orphan Disease Center, says the goal of patient registries is to learn from current patients and physicians about medical care for a particular disease and use this information to improve future treatment.

“We see registries as a way to collect clinically relevant information, empower the patient experience, and share this data back to the community,” Winslow says. “It is therefore important for patients to understand how sharing health information through a registry can impact clinical trials and make a difference in quality of care.”

Registries store data, records or laboratory samples that can be made available for research or comparative study.  Their primary role is to stimulate research on the natural history of rare diseases and expand the body of information about a rare disorder that is available to researchers and clinicians. 

The collection of patient data facilitates the creation of standards of care and substantially improves patient outcomes and life expectancy by improving the management of the disease based on individual and collective medical data.  Of course, the ultimate effectiveness of patient registries hinges on a single factor: patients and whether they choose to enroll in a registry. 

In an interview in Medscape, Dr. Marshall L. Summar, Chief of Genetics and Metabolism at Children’s National Medical Center in Washington, D.C. and chairman of the National Organization for Rare Disorders (NORD) Board of Directors, issued a call to action to clinicians and health care providers (HCP), urging them to encourage their patients to participate in registries. 

“Try to get your patients with rare diseases enrolled in registries,” Summar said. “You will learn more. Your patients will learn more, and it will actually be easier to take care of them.” He adds that registries give HCPs access to information they might not otherwise have.

Patient groups such as NORD, the European Organization for Rare Diseases (EURORDIS), and the World Federation of Hemophilia (WFH) – to name a few – have identified patient registries as a global priority. For example, the WFH implemented the World Bleeding Disorders Registry (WBDR) in January as part of its vision of treatment for all. The WBDR has a five-year goal of enrolling 200 hemophilia treatment centers (HTC) representing 50 countries and 10,000 people with hemophilia.

“The WBDR is intended to collect real world data on the patient clinical experience around the globe,” WFH CEO Alain Baumann said. “Registries allow researchers to use patient data to generate evidence and build advocacy initiatives aimed at health policy decision makers.”


Alain Bauman

World Federation of Hemophilia CEO Alain Baumann says advocacy initiatives are enhanced by data from patient information registries such as the World Bleeding Disorders Registry.

Baumann added that registries with international collaboration between centers and countries are “an effective way to pool data in order to achieve a sufficient sample size to enable epidemiological and clinical research for rare disorders.”

NORD is partnering with disease-specific advocacy organizations to launch patient-centered registries. The registries will allow patients around the world to share relevant data, connect with researchers, and support research on how variables such as diet, exercise, environmental factors and other variables may affect disease progression.

If you are a patient and are interested in enrolling in a registry, speak with your doctor or patient advocacy group for information.