Cohort for Bardet-Biedl and Alström Syndromes
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique
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
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 350 (estimated) |
| Ages | 4 Months and up |
| Sex | All |
| Sponsor | University Hospital, Strasbourg, France Academic / other |
| Locations | 1 site (Strasbourg) |
| Trial ID | NCT04461444 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with Bardet-Biedl Syndrome or Alström Syndrome, including children over 4 months old.
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.
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 performed: While studies on rare syndromes are limited, establishing cohorts for similar conditions has shown promise in improving understanding and management of these diseases.
Eligibility criteria
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 this trial is running
Strasbourg
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.