NCT04461444

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

COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 350 (estimated)
• Sponsor: University Hospital, Strasbourg, France · Academic / Other
• Sex: All
• Age: 4 Months
• Healthy volunteers: Not accepted

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

Conditions

• Bardet-Biedl Syndrome
• Alström Syndrome

Interventions

Type	Name	Description
GENETIC	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)

Timeline

• Start date: 2020-06-16
• Primary completion: 2025-02-01
• Completion: 2035-02-01
• First posted: 2020-07-08
• Last updated: 2021-09-10

Locations

1 site across 1 country: France