RecruitingNot ApplicableNCT04461444

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


Sponsor

University Hospital, Strasbourg, France

Enrollment

350 participants

Start Date

Jun 16, 2020

Study Type

INTERVENTIONAL

Conditions

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


Eligibility

Min Age: 4 Months

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying Skin biopsy for people with alström syndrome and bardet-biedl syndrome. The study is currently recruiting participants at 1 location.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

GENETICSkin 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

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NCT04461444


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