Status:
RECRUITING
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
Lead Sponsor:
University Hospital, Strasbourg, France
Conditions:
Bardet-Biedl Syndrome
Alström Syndrome
Eligibility:
All Genders
4+ years
Phase:
NA
Brief 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 li...
Eligibility Criteria
Inclusion
- Patients of both sex
- Age minimum\*
- patients with social protection
- Written informed consent form signed prior initiating any trial related procedure:
- by \> 18-year old patients
- by both parents for minor patients \> 4 months or legal representative for protected adults, and by minor and protected adults patients if able to understand and/or give their assent.
- For foreign patients, a third party will translate, if required, the information prior to the consent.
- a diagnosis of BBS or ALMS based on molecular assessment or clinical evaluation/or patient with mutation and none of the diagnosis criteria
- and/or an identified mutation in BBS genes or ALMS1 gene
- The inclusion of children is essential to a cohort study that is attempting an early identification of visual, metabolic and renal abnormalities. Many of the age-dependent manifestations of BBS develop during childhood and the average age of diagnosis is 9.2 years
Exclusion
- 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 ...).
Key Trial Info
Start Date :
June 16 2020
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
February 1 2035
Estimated Enrollment :
350 Patients enrolled
Trial Details
Trial ID
NCT04461444
Start Date
June 16 2020
End Date
February 1 2035
Last Update
September 10 2021
Active Locations (1)
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1
Les Hôpitaux Universitaires de Strasbourg
Strasbourg, France, 67098