Cohort for Bardet-Biedl and Alström Syndromes
Official title: COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique
Run by University Hospital, Strasbourg, France · NCT04461444 · Data updated 2026-11-12
This study is trying to learn more about Bardet-Biedl and Alström Syndromes by collecting health information from both kids and adults to see how these rare conditions affect their lives over time.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 4 Months and up |
| Sex | All |
| Enrollment | 350 (estimated) |
| Sponsor | University Hospital, Strasbourg, France Academic / other |
| Locations | 1 site (Strasbourg) |
| Status | Recruiting |
| Started | June 16, 2020 |
| Main results expected | February 2025 |
| Study ends | February 2035 |
| Registry record updated | September 10, 2021 |
| Trial ID | NCT04461444 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients diagnosed with Bardet-Biedl Syndrome or Alström Syndrome, including children over 4 months old.
✕Probably not a fit
Patients without a confirmed diagnosis of BBS or ALMS or those who do not meet the inclusion criteria may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study aims to establish a cohort of patients with Bardet-Biedl Syndrome (BBS) and Alström Syndrome (ALMS) to better understand the natural history of these rare diseases. The researchers will collect clinical and biological data to assess the long-term effects of these conditions on patients' quality of life. By including both children and adults, the study seeks to identify early manifestations of visual, metabolic, and renal abnormalities associated with these syndromes. A skin biopsy will be performed as part of the intervention to gather necessary biological samples.
Why it matters
Potential benefit: If successful, this study could lead to improved patient care and a better understanding of treatment impacts on quality of life for individuals with BBS and ALMS.
How similar studies have gone: While studies on rare syndromes are limited, establishing cohorts for similar conditions has shown promise in improving understanding and management of these diseases.
Who can join: the full rules
Show full inclusion / exclusion criteria
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 ...).
Where it's running
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Les Hôpitaux Universitaires de Strasbourg
Strasbourg, France Recruiting
Study contacts
- Study coordinator: Hélène DOLFFUS
- Email: helene.dollfus@chru-strasbourg.fr
- Phone: +33.3.69.55.19.55
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Setmelanotide in BBS and related genetic obesity: real-world effects
This study tests how well Setmelanotide works and is tolerated in people with Bardet-Biedl syndrome or similar genetic obesity conditions in routine clinical care.
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Registry for inherited retinal degenerative diseases
This study is creating a registry for people with rare inherited eye diseases to help track their health and experiences over time, making it easier to understand these conditions and support research.
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Registry for individuals with Bardet-Biedl Syndrome
This study is creating a registry to gather health information from people with Bardet-Biedl Syndrome to better understand the condition and help develop new treatments.
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Resource for Hepato/Renal Fibrocystic Diseases
This study is trying to collect detailed health and genetic information from people with hepato/renal fibrocystic diseases to improve understanding and treatment options for these conditions.
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First-in-human, dose-escalation test of AXV-101 for BBS1-related retinal degeneration
AXV-101 is tested in children and teens with BBS1 retinal degeneration to see if it is safe, find a good dose, and measure how much drug appears in blood, urine, and tears.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.