ClinicalTrials.gov record NCT04461444

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Aug 22, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.The registry record was last updated on Sep 10, 2021, about 5 years ago, so the status shown may be out of date. The study team or the registry can confirm.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
Age4 months old and older
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This single-group interventional cohort gathers detailed clinical, biological and quality-of-life information from people with Bardet-Biedl syndrome or Alström syndrome. The study records medical history, biological results, social-life questionnaires and treatments over time and includes a skin biopsy for genetic testing.

What it is studying. It aims to describe the long-term clinical and biological natural history of Bardet-Biedl and Alström syndromes and to assess how current treatments relate to patients' quality of life.

What the researchers hope to learn. To build a cohort and record the clinical history (renal, eye, endocrine and general exams), biological results, social-life/quality-of-life questionnaires, and treatments/surgeries over 5 years; to create a resource for translational research on BBS and ALMS.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Genetic
  • Skin biopsy

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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 description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will have their medical history and clinical examinations recorded and biological results collected and kept over a 5-year period. They will complete questionnaires about social life/quality of life and the study will record treatments (medical and surgical). A skin biopsy is part of the study procedures; it is done under local anaesthesia, can cause pain, and may leave a visible scar (about 2 x 1 cm). Routine visits, tests and follow-up for data collection are part of taking part in the cohort.

How the study is structured. A single-group interventional cohort (no masking). Participants have clinical exams, biological testing, questionnaires about social life/quality of life, and a skin biopsy for genetic analysis; data are collected and recorded over a multi-year period (primary outcomes measured over 5 years).

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Bardet-Biedl syndrome

This trial is also listed on this site under Alström syndrome.

Clinical trials7 trials listed for Bardet-Biedl syndromeEvery trial the registry lists for Bardet-Biedl syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Bardet-Biedl syndrome researchLatest monthly update: September 2026. Includes: Hunger and weight changes. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jun 16, 2020
Primary completion
February 2025 (estimated)
Study completion
February 2035 (estimated)
Target enrollment
350 participants (estimated)
Last updated on registry
Sep 10, 2021
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
University Hospital, Strasbourg, France

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

natural history
A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
cohort
A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
Written informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
legal representative
A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
assent
A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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