Trials / NCT04461444
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
Recruiting now N/A Other
- Sponsor
- University Hospital, Strasbourg, France
- Treatment
- Skin biopsy
- Gene
- Not stated
- Conditions
- Bardet-Biedl Syndrome, Alström Syndrome
- Ages
- 4 Months to no upper limit
- Enrollment
- 350 participants
- Started
- 2020-06-16
- Main results expected
- 2025-02
- Results posted
- Not yet
- Record last updated
- 2021-09-10
What the study is testing
ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the diseases. the investigators aim to establish a French cohort for these diseases to improve patient care and assess the effect of actual therapies on quality of life.
The purpose of this study is to establish a cohort of Bardet-Bield syndrome (BBS) and ALström syndrome (ALMS) patients in order to formalize and address questions concerning the in-depth natural clinical and biological history of the disease on the long term for a given patient, establish the impact on the quality of life of various clinical manifestations
Where it runs
France (1)
- Les Hôpitaux Universitaires de Strasbourg, Strasbourg (recruiting now)