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NCT Number: NCT04461444

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

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

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Key information

Conditions

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

Age range

4 month and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Les Hôpitaux Universitaires de Strasbourg

Strasbourg, 67098, France

Location status: Recruiting

Location contact

Anaïs PHILIPPE

SUB_INVESTIGATOR

Elise SCHAEFER

SUB_INVESTIGATOR

Hélène DOLFFUS

PRINCIPAL_INVESTIGATOR

Hélène DOLLFUS

CONTACT

[email protected]

+33 3.69.55.19.55

Sylvie ROSSIGNOL

SUB_INVESTIGATOR

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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 ...).

Treatment and study plan

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)

Primary outcomes

  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)

Study contacts

Contact information is provided by the study sponsor or research team.

Hélène DOLFFUS

CONTACT

[email protected]

+33.3.69.55.19.55

Sponsors and collaborators

Lead sponsor

University Hospital, Strasbourg, France

Other

Registry information

Official study title

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

Acronym: COBBALT

Important dates

Study start
2020
Primary completion
2025
Study completion
2035
First posted
Jul 8, 2020
Registry last updated
Sep 10, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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