NCT04461444 COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
| NCT ID | NCT04461444 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University Hospital, Strasbourg, France |
| Condition | Bardet-Biedl Syndrome |
| Study Type | INTERVENTIONAL |
| Enrollment | 350 participants |
| Start Date | 2020-06-16 |
| Primary Completion | 2025-02 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
This trial targets 350 participants in total. It began in 2020-06-16 with a primary completion date of 2025-02.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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
Eligibility 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 ...).
Contact & Investigator
Frequently Asked Questions
Who can join the NCT04461444 clinical trial?
This trial is open to participants of all sexes, aged 4 Months or older, studying Bardet-Biedl Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT04461444 currently recruiting?
Yes, NCT04461444 is actively recruiting participants. Contact the research team at helene.dollfus@chru-strasbourg.fr for enrollment information.
Where is the NCT04461444 trial being conducted?
This trial is being conducted at Strasbourg, France.
Who is sponsoring the NCT04461444 clinical trial?
NCT04461444 is sponsored by University Hospital, Strasbourg, France. The trial plans to enroll 350 participants.