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

NCT04461444 | Recruiting

• 1 other identifier: 7076
• Study Type: interventional
• Target: 350
• Locations: 1 country
• Sites: 1

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

Conditions

Bardet-Biedl Syndrome; Alström Syndrome

Outcome Measures

Primary Outcomes (4)

• 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

Study Arms (1)

Group ALMS et BBS

OTHER

Genetic: Skin biopsy

Interventions

Skin biopsy GENETIC

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)

Group ALMS et BBS

Eligibility Criteria

• Age: 4 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• Serious active intercurrent pathology that may impact the collected data
• Patient under judicial protection
• Non protected adult with difficulty of comprehension, or inability to understand the delivered information (emergency situation ...).

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

Les Hôpitaux Universitaires de Strasbourg

Strasbourg, 67098, France

RECRUITING

MeSH Terms

Conditions

Bardet-Biedl Syndrome; Alstrom Syndrome

Condition Hierarchy (Ancestors)

Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Retinitis Pigmentosa; Eye Diseases, Hereditary; Eye Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases

Central Study Contacts

Hélène DOLFFUS

CONTACT

+33.3.69.55.19.55; helene.dollfus@chru-strasbourg.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SUPPORTIVE CARE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 21, 2019
• First Posted: July 8, 2020
• Study Start: June 16, 2020
• Primary Completion: February 1, 2025
• Study Completion (Estimated): February 1, 2035
• Last Updated: September 10, 2021

Record last verified: 2021-09

Locations

FR (1)