Clinical trial NCT04461444: COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
Official title: COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Bardet-Biedl Syndrome
Alström Syndrome
Lead sponsor: University Hospital, Strasbourg, France
Sponsor class: OTHER
First posted: 2020-07-08
Enrollment: 350
Sex: ALL
Minimum age (years): 4
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: SUPPORTIVE_CARE

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 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 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 ...).

Primary outcomes:
measure: Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
timeFrame: 5 years
measure: Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
timeFrame: 5 years
measure: Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
timeFrame: 5 years
measure: Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
timeFrame: 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Strasbourg
country: France
facility: Les Hôpitaux Universitaires de Strasbourg
Study officials:
References: