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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04461444
Recruitment Status : Recruiting
First Posted : July 8, 2020
Last Update Posted : September 10, 2021
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

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
Bardet-Biedl Syndrome Alström Syndrome Genetic: Skin biopsy Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated 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 : June 16, 2020
Estimated Primary Completion Date : February 2025
Estimated Study Completion Date : February 2035

Arm Intervention/treatment
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)

Primary Outcome Measures :
  1. Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS). [ Time Frame: 5 years ]
    renal function, eyes, endocrine, Clinical Examination

  2. Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS). [ Time Frame: 5 years ]
    Record of biological results

  3. Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS). [ Time Frame: 5 years ]
    Record of Social Life with questionnaire

  4. Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS). [ Time Frame: 5 years ]
    Record of treatments (therapy and surgery)

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   4 Months and older   (Child, Adult, Older Adult)
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 ...).

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04461444

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Contact: Hélène DOLFFUS +

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Les Hôpitaux Universitaires de Strasbourg Recruiting
Strasbourg, France, 67098
Contact: Hélène DOLLFUS    +33   
Sub-Investigator: Sylvie ROSSIGNOL         
Sub-Investigator: Elise SCHAEFER         
Sub-Investigator: Anaïs PHILIPPE         
Principal Investigator: Hélène DOLFFUS         
Sponsors and Collaborators
University Hospital, Strasbourg, France
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Responsible Party: University Hospital, Strasbourg, France Identifier: NCT04461444    
Other Study ID Numbers: 7076
First Posted: July 8, 2020    Key Record Dates
Last Update Posted: September 10, 2021
Last Verified: September 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Bardet-Biedl Syndrome
Laurence-Moon Syndrome
Alstrom Syndrome
Pathologic Processes
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Retinitis Pigmentosa
Eye Diseases, Hereditary
Eye Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Hereditary Sensory and Motor Neuropathy
Nervous System Malformations
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Peripheral Nervous System Diseases
Neuromuscular Diseases