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

Last updated: September 9, 2021
Sponsor: University Hospital, Strasbourg, France
Overall Status: Active - Recruiting

Phase

N/A

Condition

Retinitis Pigmentosa

Treatment

N/A

Clinical Study ID

NCT04461444
7076
  • Ages > 4
  • All Genders

Study 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 Criteria

Inclusion

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 forprotected adults, and by minor and protected adults patients if able tounderstand and/or give their assent.
  • For foreign patients, a third party will translate, if required, the informationprior to the consent.
  • a diagnosis of BBS or ALMS based on molecular assessment or clinical evaluation/orpatient 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 anearly identification of visual, metabolic and renal abnormalities. Many of theage-dependent manifestations of BBS develop during childhood and the average ageof diagnosis is 9.2 years

Exclusion

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 exclusionperiod
  • Non protected adult with difficulty of comprehension, or inability to understand thedelivered information (emergency situation ...).

Study Design

Total Participants: 350
Study Start date:
June 16, 2020
Estimated Completion Date:
February 28, 2035

Connect with a study center

  • Les Hôpitaux Universitaires de Strasbourg

    Strasbourg, 67098
    France

    Active - Recruiting

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