RecruitingOBSERVATIONAL

Identifying New Genetic Causes to Development Disorders

This research aims to discover new genetic causes for conditions that affect how a person grows, goes through puberty, or develops sexually. These conditions can sometimes be due to changes in our genes, which are the instructions inside our bodies. Researchers will study blood samples to look for these genetic changes, also known as mutations. They want to understand how often these changes happen, if they are linked to other health problems, and how they contribute to these conditions. The goal is to gain a deeper understanding that could eventually lead to improved care and support for individuals affected by these disorders. It's about helping to piece together the puzzle of these conditions at a genetic level.

At a glance

Status

Recruiting

Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Enrolment target

1,100

Start

21 Feb 2017

Estimated completion

21 Feb 2027

Disorders of Sex Development Growth Disorders Puberty Disorders

What is this study about?

Imagine your body is built using a very complex instruction manual, called your genes. Sometimes, a tiny typo or a missing page in this manual can lead to differences in how you grow, how you go through puberty, or how your body develops in terms of sex. These are often called 'disorders of growth, puberty, and sex development'.

This study is like a detective story, where researchers are trying to find these specific 'typos' or 'missing pages' in people's genetic instruction manuals. They believe that by carefully looking at the genes of individuals with these conditions, they might discover new genetic reasons that we don't yet know about. Understanding these new causes is really important because it helps doctors and scientists figure out why these conditions happen.

Ultimately, knowing more about the genetic roots of these conditions can make a big difference. It could lead to better ways to diagnose them, improve the care and support available, and maybe even help develop new treatments in the future. It's all about increasing our knowledge to help those affected live healthier and fuller lives.

Key takeaways

This study explores new genetic reasons for growth, puberty, and sex development differences.
It only requires a blood sample from participants.
Participation helps scientists understand these conditions better for future patients.
There are no direct medical benefits to you, but your contribution helps research.
You can stop participating at any time.

Who may be eligible?

This study is looking for people who have certain conditions affecting their growth, puberty, or sex development. This includes individuals who have a problem with their body making enough growth hormone from birth, or those experiencing difficulties with puberty, such as starting too early or too late, or not going through it properly.

You might also be eligible if you have certain conditions affecting your ovaries or testes, like if the ovaries stop working too early (primary ovarian failure), or if the testes haven't developed properly or are missing (gonadal dysgenesis or anorchia). Anyone with a 'disorder of sex development' is also invited to consider taking part.

Importantly, if a close family member has one of these conditions mentioned above, you might also be able to join the study. However, you won't be able to take part if your condition is known to be caused by things from your environment or if it's an autoimmune condition where your body's immune system attacks itself.

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 problem with your growth hormone from birth?
Are you experiencing issues with puberty, such as it not starting, ending, or happening unusually?
Do you have a known condition affecting your ovaries or testes, or a disorder of sex development?
Is a close family member affected by one of these conditions?
Are your symptoms not caused by environmental factors or an autoimmune disease?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, it's quite straightforward. The main thing you'll need to do is provide a blood sample. This is similar to giving blood for a regular doctor's visit and will be used for genetic testing. There are no special medications to take or extra appointments to attend after the blood sample is given. The study is focused on analysing the genetic information from this single sample. You won't need to visit a clinic multiple times, and there's no ongoing follow-up required from your side once your blood sample has been collected. The total duration of your active involvement in the study is therefore very short, just the time it takes to give the blood sample.

Potential risks and benefits

Taking part in this study primarily involves giving a blood sample, which carries minimal risks, similar to a standard blood test, such as slight bruising or discomfort at the injection site. The potential benefits are mostly for future patients, as the research aims to improve our understanding of genetic causes for these conditions, which could lead to better diagnoses and treatments down the line. While there's no direct personal medical benefit to you from participating, your contribution is valuable to scientific discovery. Remember, you can decide to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (1)

Hôpital Fondation A de Rothschild
Verified postcode
Paris, France· Recruiting

Common questions

What kind of conditions is this study looking at?

It's focusing on conditions that affect how a person grows, goes through puberty, or develops sexually, and are thought to have a genetic cause.

What will I have to do if I join?

You will need to provide a single blood sample for genetic testing. That's the main part of your involvement.

Will I get any results from my genetic test?

The study aims to understand genetic causes in general. Individual results may not be shared, but the research team can explain their policy on this.

Are there any side effects from taking part?

The only procedure is giving a blood sample, which might cause a little discomfort or bruising, like any blood test.

Can I change my mind after joining?

Yes, you are completely free to withdraw from the study at any time, and it won't affect any medical care you receive.

How to find out more

Amélie YAVCHITZ, MD, PHD

ayavchitz@for.paris 01 48 03 64 54 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.