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

  • STATUS
    Recruiting
  • End date
    Feb 5, 2035
  • participants needed
    350
  • sponsor
    University Hospital, Strasbourg, France
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Updated on 5 August 2020
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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 ALstrm 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

Details
Condition Bardet-Biedl Syndrome, Alström Syndrome
Age 1years - 100years
Treatment Skin biopsy
Clinical Study IdentifierNCT04461444
SponsorUniversity Hospital, Strasbourg, France
Last Modified on5 August 2020

Eligibility

 Yes No Not Sure

Inclusion Criteria

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 Criteria

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 ...)
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