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

Sponsor
University Hospital, Strasbourg, France (Other)
Overall Status
Recruiting
CT.gov ID
NCT04461444
Collaborator
(none)
350
1
1
175.5
2

Study Details

Study Description

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

Condition or Disease Intervention/Treatment Phase
  • Genetic: Skin biopsy
N/A

Study Design

Study Type:
Interventional
Anticipated Enrollment :
350 participants
Allocation:
N/A
Intervention Model:
Single Group Assignment
Masking:
None (Open Label)
Primary Purpose:
Supportive Care
Official Title:
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique
Actual Study Start Date :
Jun 16, 2020
Anticipated Primary Completion Date :
Feb 1, 2025
Anticipated Study Completion Date :
Feb 1, 2035

Arms and Interventions

Arm Intervention/Treatment
Other: Group ALMS et BBS

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)

Outcome Measures

Primary Outcome Measures

  1. Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS). [5 years]

    renal function, eyes, endocrine, Clinical Examination

  2. Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS). [5 years]

    Record of biological results

  3. Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS). [5 years]

    Record of Social Life with questionnaire

  4. Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS). [5 years]

    Record of treatments (therapy and surgery)

Eligibility Criteria

Criteria

Ages Eligible for Study:
4 Months and Older
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
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 ...).

Contacts and Locations

Locations

Site City State Country Postal Code
1 Les Hôpitaux Universitaires de Strasbourg Strasbourg France 67098

Sponsors and Collaborators

  • University Hospital, Strasbourg, France

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.
Responsible Party:
University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier:
NCT04461444
Other Study ID Numbers:
  • 7076
First Posted:
Jul 8, 2020
Last Update Posted:
Sep 10, 2021
Last Verified:
Sep 1, 2021
Individual Participant Data (IPD) Sharing Statement:
Undecided
Plan to Share IPD:
Undecided
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No
Additional relevant MeSH terms:

Study Results

No Results Posted as of Sep 10, 2021