The FAIR4Rare evaluation project
The FAIR4Rare evaluation project, funded by the Innovation Committee of the Federal Joint Committee, will run from 1 April 2023 to 30 September 2025. Project partners from healthcare research, hospitals, registry operators and patient organisations are examining the extent to which NARSE is accepted by users and what further developments are necessary to meet the special needs of patients with rare diseases.
FAIR4Rare focuses on three selected diseases that differ significantly in their frequency, type of care and existing registries:
Osteogenesis imperfecta (OI) and related fragility disorders are rare genetic diseases characterised by bone fragility and other symptoms. The prevalence of OI is approximately 1:10,000 and there is currently no national registry for this disease.
Monogenic forms of obesity are ultra-rare diseases that are caused by specific genetic mutations. The prevalence is less than 1:1,000,000 and there is no national or European register for these diseases.
Cystic fibrosis (CF) is a disease caused by mutations in the CFTR gene. The prevalence is about 1:3,000 and there is a comprehensive national registry for CF.