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
Patients of both sex
Age minimum*
patients with social protection
by > 18-year old patients
Serious active intercurrent pathology that may impact the collected data
Patient under judicial protection
Participation in another interventional clinical trial which includes an exclusion period
Non protected adult with difficulty of comprehension, or inability to understand the delivered information (emergency situation ...).
Single group
Skin biopsy
GeneticCOBBALT 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)
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
renal function, eyes, endocrine, Clinical Examination
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Record of biological results
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Record of Social Life with questionnaire
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Record of treatments (therapy and surgery)
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