COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
This study is gathering a group of people in France who have either Bardet-Biedl Syndrome (BBS) or Alström Syndrome (ALMS). These are rare conditions that can affect many parts of the body, including sight, hearing, and metabolism, sometimes leading to diabetes. At the moment, there are no specific cures, and doctors don't fully understand how these diseases change over many years. Researchers want to create a long-term group of patients to learn more about the conditions' natural progression, how they affect quality of life, and how current treatments are working. This will help improve care for people with BBS and ALMS in the future.
At a glance
What is this study about?
Imagine a special group of people, called a 'cohort', all living in France, who have been diagnosed with either Bardet-Biedl Syndrome (BBS) or Alström Syndrome (ALMS). These are rare conditions, which means not many people have them. They can cause a range of health issues, like problems with vision, hearing, and how the body uses energy (metabolism), sometimes including diabetes.
At the moment, there aren't specific treatments for these syndromes, and doctors want to learn much more about them. This study aims to watch how these conditions develop and change over many years in each person. They also want to understand how different health symptoms affect people's daily lives and how well standard treatments are working.
The main goal is to build a strong foundation of knowledge about BBS and ALMS. By collecting information over time from many people, researchers hope to improve the care that patients receive, find better ways to manage the conditions, and ultimately enhance the quality of life for everyone affected.
Key takeaways
- This study aims to understand Bardet-Biedl and Alström Syndromes better.
- It's a long-term study that follows patients over time.
- It helps gather information about how the conditions progress and affect daily life.
- Participation involves sharing medical information and possibly a skin biopsy.
- The goal is to improve care and quality of life for people with these rare conditions.
Who may be eligible?
To join this study, you must have either Bardet-Biedl Syndrome (BBS) or Alström Syndrome (ALMS). This diagnosis should have been confirmed by genetic tests or by a doctor's examination. We welcome people of all genders and ages, from babies as young as four months to adults, as understanding how these conditions develop in childhood is very important.
You also need to be living in France and have access to social security or healthcare. If you're 18 or older, you'll need to read and sign a consent form yourself. If you're under 18, both parents or your legal guardian will need to sign, and if you're old enough to understand, you'll also be asked if you'd like to take part.
However, some things might prevent you from joining. For example, if you have another serious illness that could affect the study's results, or if you're already taking part in another medical study that isn't finished yet. Also, if you're unable to understand the study details, you wouldn't be able to participate.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Do you have a confirmed diagnosis of Bardet-Biedl Syndrome or Alström Syndrome?
- Are you living in France and covered by social security?
- Could you (or your legal guardian) understand and sign a consent form?
- Are you not currently involved in another medical study that prevents joining this one?
- Do you not have another serious illness that could interfere with the study?
What does participation involve?
This study involves researchers collecting information about your health over time. This might include details about your existing health problems, any treatments you are receiving, and how these affect your daily life. It’s primarily about observing and understanding the natural course of your condition.
You may be asked to undergo a small skin biopsy, which is a minor procedure where a tiny piece of skin is removed for examination. The study doesn't involve testing new medications or treatments. Instead, it focuses on gathering detailed information to help doctors better understand Bardet-Biedl Syndrome and Alström Syndrome. The overall duration isn't specified, but it's designed to be a long-term observation of these conditions.
Potential risks and benefits
Locations (1)
- Les Hôpitaux Universitaires de StrasbourgVerified postcodeStrasbourg, France· Recruiting
Common questions
What is a 'cohort study'?
A 'cohort study' means researchers will follow a group of people with the same condition over a long time to see how their health changes and progresses.
Will I have to try new medicines?
No, this study is about observing your condition and current treatments, not testing new medicines. It's not an 'interventional' drug trial.
What is a skin biopsy?
A skin biopsy is a simple procedure where a very small piece of your skin is taken. It's usually done with a local anaesthetic to numb the area, so it's not painful.
Who is running this study?
This is a monocentric (one-centre) study involving researchers and doctors who specifically focus on Bardet-Biedl Syndrome and Alström Syndrome in France.
Will my personal information be kept private?
Yes, all your personal and medical information will be kept strictly confidential and handled according to privacy rules.
How to find out more
Hélène DOLFFUS
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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