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COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
Sponsor: University Hospital, Strasbourg, France
Summary
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
Official title: COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique
Key Details
Gender
All
Age Range
4 Months - Any
Study Type
INTERVENTIONAL
Enrollment
350
Start Date
2020-06-16
Completion Date
2035-02
Last Updated
2021-09-10
Healthy Volunteers
No
Conditions
Interventions
Skin biopsy
COBBALT is considered as an interventional with minor associated risks and constrains study due to the presence of skin biopsies that may not all be part of the usual medical practice. Risks are those linked to the biopsy procedure: * risk of pain due to the procedure performed under local anaesthesia * can leave a visible scar (about 2 x 1 cm)
Locations (1)
Les Hôpitaux Universitaires de Strasbourg
Strasbourg, France