Rare disease research is challenging, because patient information about the conditions is inherently limited. Patient recruitment for clinical trials can be especially difficult, because so few people are affected.
To address these issues, a number of foundations, patient advocacy groups and governmental institutions have launched online registries to collect patient information for use by researchers, doctors and public health experts.
In addition to bolstering rare-disease research and study recruitment, many registries enable patients to collect and track information about their health, so they can take an active role in managing their care.
In 1992, the Foundation Fighting Blindness established a registry for people with retinal degenerative diseases and their families. We’ve collected information from approximately 11,000 participants and are currently migrating over to a significantly enhanced, user-accessible, online system. Stay tuned for further details as we move closer to rolling it out.
Basic Features of a Registry
Patient registries can vary widely in their features and capabilities. The focus is on providing participants with online access and control, so they can create and edit their information and record their personal experiences with their condition over time. Many systems also allow both patients and their physicians to upload and access medical records.
The information collected often includes: genetic profiles, lifestyle habits, disease symptoms, prescribed treatments and their effectiveness and family histories. In some cases, complete electronic medical records — including images obtained through fundus photography or optical coherence tomography — can be uploaded.
Biobanks for Storing Biological Samples
Some registries may include, or be linked to, a biobank, which stores biological samples from patients and their relatives. The value of these samples is that they can be used for future genetic studies or research. The samples might include: cells scraped from a patient’s skin or the inside of his or her cheek, cells isolated from a patient’s blood sample, DNA extracted from blood or tissue or other biological materials.
Information on Family Members
Relatives of people affected by a disease may also be part of a registry or biobank. Information from family members can help researchers better understand disease-risk factors, including genetics, disease inheritance patterns and lifestyle habits that may affect disease onset and severity.
De-identification to Ensure Patient Confidentiality
Researchers usually have to apply for access to a registry or biobank and demonstrate they have a valid and relevant scientific project that would benefit from access to the data. They also agree to respect patient confidentiality. While registries provide patient information to researchers, the data is usually “de-identified” to maintain the patients’ anonymity.
With de-identification, patients are assigned a unique alpha-numeric identifier. Researchers are given access to the patient information except for names — the identifier is used instead. However, in some registries, patients may not be de-identified, allowing researchers to contact them directly.
The Benefit of Registry Networks
By linking different registries together, scientists are learning how various diseases relate to each other, including how a therapy for one condition might work for another. For example, an investigator might identify a treatment candidate for retinal degenerative diseases by investigating emerging therapies that work for other neurodegenerative disorders.
The National Institute of Health’s Office of Rare Disease Research recently launched its Global Rare Diseases Patient Registry and Data Repository (GRDR), a pilot program connecting different patient registries to facilitate pan-disease analysis. The GRDR serves as a network hub and repository to enable researchers to access various rare-disease registries to search for associations and commonalities among different conditions. The Foundation Fighting Blindness is a participant in the GRDR.
For More Information
In the meantime, to learn more about patient registries, visit the following pages on the GRDR Web site: