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

Bardet-Biedl Syndrome Clinical Trial

— COBBALT  

Official title:

COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04461444
• Other study ID #: 7076
• Status: Recruiting
• Phase: N/A
• Start date: June 16, 2020
• Est. completion date: February 2035

Study information

• Verified date: September 2021
• Source: University Hospital, Strasbourg, France
• Contact: Hélène DOLFFUS
• Phone: +33.3.69.55.19.55
• Email: helene.dollfus[@]chru-strasbourg.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 350
• Est. completion date: February 2035
• Est. primary completion date: February 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 4 Months and older

Eligibility

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 ...).

Related Conditions & MeSH terms

• Alstrom Syndrome
• Alström Syndrome
• Bardet-Biedl Syndrome
• Syndrome

Intervention

Genetic:
• Skin 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

Country	Name	City	State
France	Les Hôpitaux Universitaires de Strasbourg	Strasbourg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).	renal function, eyes, endocrine, Clinical Examination	5 years
Primary	Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).	Record of biological results	5 years
Primary	Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).	Record of Social Life with questionnaire	5 years
Primary	Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).	Record of treatments (therapy and surgery)	5 years