French Cohort Study for Bardet-Biedl Syndrome and Alstrm Syndrome to Improve Care and Understand Disease Progression

What this Trial Is About

This research aims to establish a patient group in France for Bardet-Biedl Syndrome BBS and Alstrm Syndrome ALMS, two rare diseases that share features like multiple sensory and metabolic problems, including diabetes. There are currently no specific treatments available, and the study seeks to understand the long-term natural clinical and biological history of these diseases and how their various symptoms affect quality of life. Participants will undergo procedures including skin biopsies, which carry minor risks such as pain and possible scarring. The study focuses on collecting detailed clinical histories over a 5-year period to better characterize these conditions. Both children and adults diagnosed with BBS or ALMS based on clinical or genetic evaluation can take part. During the study, participants will be monitored for changes in their symptoms and quality of life. Researchers will collect and analyze clinical data over 5 years to track disease progression. The study involves signing informed consent and may include translation support for non-French speakers. The total participation duration is at least 5 years, with ongoing health assessments throughout this time.

COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study