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

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

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

Study Overview

• Status: Recruiting
• Conditions: Bardet-Biedl Syndrome; Alström Syndrome
• Intervention / Treatment: Genetic: Skin biopsy

• Study Type: Interventional
• Enrollment (Anticipated): 350
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Hélène DOLFFUS; Phone Number: +33.3.69.55.19.55; Email: helene.dollfus@chru-strasbourg.fr

Study Locations

• France
  • Strasbourg, France, 67098
    • Recruiting
    • Les Hôpitaux Universitaires de Strasbourg
    • Contact: Hélène DOLLFUS; Phone Number: +33 3.69.55.19.55; Email: helene.dollfus@chru-strasbourg.fr
    • Sub-Investigator: Sylvie ROSSIGNOL
    • Sub-Investigator: Elise SCHAEFER
    • Sub-Investigator: Anaïs PHILIPPE
    • Principal Investigator: Hélène DOLFFUS

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 4 months and older (ADULT, OLDER_ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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 ...).

Study Plan

How is the study designed?

Design Details

• Primary Purpose: SUPPORTIVE_CARE
• Allocation: NA
• Interventional Model: SINGLE_GROUP
• Masking: NONE

Number of Arms

1

Arms and Interventions

Participant Group / 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)

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: University Hospital, Strasbourg, France

Study record dates

Study Major Dates

• Study Start (ACTUAL): June 16, 2020
• Primary Completion (ANTICIPATED): February 1, 2025
• Study Completion (ANTICIPATED): February 1, 2035

Study Registration Dates

• First Submitted: January 21, 2019
• First Submitted That Met QC Criteria: July 2, 2020
• First Posted (ACTUAL): July 8, 2020

Study Record Updates

• Last Update Posted (ACTUAL): September 10, 2021
• Last Update Submitted That Met QC Criteria: September 9, 2021
• Last Verified: September 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Eye Diseases; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Hypothalamic Diseases; Eye Diseases, Hereditary; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Abnormalities, Multiple; Ciliopathies; Polyneuropathies; Retinitis Pigmentosa; Hereditary Sensory and Motor Neuropathy; Syndrome; Bardet-Biedl Syndrome; Laurence-Moon Syndrome; Alstrom Syndrome
• Other Study ID Numbers: 7076

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No