Patient registries are crucial for rare disease research because they collect and organize data from individuals affected by these conditions, helping researchers understand disease progression, identify patterns, and evaluate treatments. Since rare diseases often affect small populations, registries provide a centralized source of valuable clinical and demographic information, enabling more effective research, improving diagnosis and care, and supporting the development of new therapies.If you are a patient or a relative, you can support IRF2BPL research by registering in these registries. Thanks a lot.
Registries:
- IRF2BPL Registry at Weill Cornell Medicine: https://shorturl.at/oxcNl
- IRF2BPL Registry at Simon’s Searchlight: https://research.simonssearchlight.org/account/create
Natural History Study
Funded by the Alliance for Rare, an initiative of the Eva Luise and Horst Köhler Foundation, a clinical Natural History Study for children with IRF2BPL mutations is being conducted at the sites in Göttingen and Tübingen.
The study involves approximately one 4-day hospital stay per year. The aim is to gain a better understanding of this very poorly researched condition and, in doing so, contribute to the development of a potential treatment.
The study can only include children under the age of 18 who live in Germany.