search
Back to results

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

Primary Purpose

Bardet-Biedl Syndrome, Alström Syndrome

Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Skin biopsy
Sponsored by
University Hospital, Strasbourg, France
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional supportive care trial for Bardet-Biedl Syndrome

Eligibility Criteria

4 Months - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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 ...).

Sites / Locations

  • Les Hôpitaux Universitaires de StrasbourgRecruiting

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

Group ALMS et BBS

Arm Description

Outcomes

Primary Outcome Measures

Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
renal function, eyes, endocrine, Clinical Examination
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Record of biological results
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Record of Social Life with questionnaire
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Record of treatments (therapy and surgery)

Secondary Outcome Measures

Full Information

First Posted
January 21, 2019
Last Updated
September 9, 2021
Sponsor
University Hospital, Strasbourg, France
search

1. Study Identification

Unique Protocol Identification Number
NCT04461444
Brief Title
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
Acronym
COBBALT
Official Title
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique
Study Type
Interventional

2. Study Status

Record Verification Date
September 2021
Overall Recruitment Status
Recruiting
Study Start Date
June 16, 2020 (Actual)
Primary Completion Date
February 2025 (Anticipated)
Study Completion Date
February 2035 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Strasbourg, France

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. 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

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Bardet-Biedl Syndrome, Alström Syndrome

7. Study Design

Primary Purpose
Supportive Care
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
350 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Group ALMS et BBS
Arm Type
Other
Intervention Type
Genetic
Intervention Name(s)
Skin biopsy
Intervention Description
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)
Primary Outcome Measure Information:
Title
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Description
renal function, eyes, endocrine, Clinical Examination
Time Frame
5 years
Title
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Description
Record of biological results
Time Frame
5 years
Title
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Description
Record of Social Life with questionnaire
Time Frame
5 years
Title
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Description
Record of treatments (therapy and surgery)
Time Frame
5 years

10. Eligibility

Sex
All
Minimum Age & Unit of Time
4 Months
Accepts Healthy Volunteers
No
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 ...).
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Hélène DOLFFUS
Phone
+33.3.69.55.19.55
Email
helene.dollfus@chru-strasbourg.fr
Facility Information:
Facility Name
Les Hôpitaux Universitaires de Strasbourg
City
Strasbourg
ZIP/Postal Code
67098
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Hélène DOLLFUS
Phone
+33 3.69.55.19.55
Email
helene.dollfus@chru-strasbourg.fr
First Name & Middle Initial & Last Name & Degree
Sylvie ROSSIGNOL
First Name & Middle Initial & Last Name & Degree
Elise SCHAEFER
First Name & Middle Initial & Last Name & Degree
Anaïs PHILIPPE
First Name & Middle Initial & Last Name & Degree
Hélène DOLFFUS

12. IPD Sharing Statement

Plan to Share IPD
Undecided

Learn more about this trial

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

We'll reach out to this number within 24 hrs