Phenotypic data are all kinds of clinical information regarding patients’ disease symptoms, as well as relevant demographic data, such as age, ethnicity and sex. This type of information is collected and stored by patient registries and biobanks.
The benefits of establishing patient registries are evident in rare diseases, especially the ultra-rare ones, for which expertise is available in a very small number of centres worldwide. No single institution, and in many cases no single country, has sufficient numbers of patients to conduct generalizable research or clinical trials. For most rare diseases, there is no existing therapy, and clinical trial are often the only chance for patients to receive any kind of treatment. Data stored in patient registries
help to prepare clinical trials and recruit patients with a given disease or even a particular set of symptoms.
Patient registries can also collect feedback from the patients regarding a new treatment and gather information on the numbers of patients and the medical interventions they require, which helps the healthcare systems adjust to their needs.
Currently, registries exist for a small fraction of rare diseases and, conversely, more than one registry exists for certain rare diseases. Thus, calls are increasing both for the expanded use of registries and for a more systematic and standardized approach to their creation, maintenance, and accessibility on an international and global basis.
To help researchers find registries holding data on the rare disease of interest, RD-Connect has created the Registry & Biobank Finder - a world-wide directory or rare disease patient registries and biobanks. The system helps create new registries as well as link the existing ones.