COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Inte… (NCT04461444) | Clinical Trial Compass
RecruitingNot Applicable
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
France350 participantsStarted 2020-06-16
Plain-language 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
Who can participate
Age range
4 Months
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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 ...).
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Timeframe: 5 years
2
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Timeframe: 5 years
3
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
Timeframe: 5 years
4
Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).