Actively Recruiting
Cohort for Bardet-Biedl Syndrome and Alstr m Syndrome for Translational Research Monocentric Interventional Study
Led by University Hospital, Strasbourg, France · Updated on 2021-09-10
350
Participants Needed
1
Research Sites
521 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to establish a patient group in France for Bardet-Biedl Syndrome (BBS) and Alstr m Syndrome (ALMS), two rare diseases that share features like multiple sensory and metabolic problems, including diabetes. There are currently no specific treatments available, and the study seeks to understand the long-term natural clinical and biological history of these diseases and how their various symptoms affect quality of life. Participants will undergo procedures including skin biopsies, which carry minor risks such as pain and possible scarring. The study focuses on collecting detailed clinical histories over a 5-year period to better characterize these conditions. Both children and adults diagnosed with BBS or ALMS based on clinical or genetic evaluation can take part. During the study, participants will be monitored for changes in their symptoms and quality of life. Researchers will collect and analyze clinical data over 5 years to track disease progression. The study involves signing informed consent and may include translation support for non-French speakers. The total participation duration is at least 5 years, with ongoing health assessments throughout this time.
CONDITIONS
Brief Title
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients of both sexes
- Age at least 4 months
- Patients with social protection
- Signed informed consent form prior to any trial procedure
- Diagnosis of Bardet-Biedl Syndrome or Alstr�m Syndrome based on clinical or molecular assessment, or presence of mutation in BBS or ALMS1 genes
- Consent signed by adult patients, both parents for minors over 4 months, or legal representatives for protected adults
- Translation support provided for foreign patients if needed
You will not qualify if you...
- Serious active illness that may affect data collection
- Patient under judicial protection
- Participation in another interventional clinical trial with an exclusion period
- Adults without protection who have difficulty understanding the study information
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Trial Site Locations
Total: 1 location
1
Les Hôpitaux Universitaires de Strasbourg
Strasbourg, France, 67098
Actively Recruiting
Research Team
H
Hélène DOLFFUS
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
SUPPORTIVE_CARE
Number of Arms
1
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