Not yet recruitingNAINTERVENTIONAL

Characterization of the Natural History of Microduplication Syndrome 7q11.23

This research aims to understand how social skills change over time in people with 7q11.23 microduplication syndrome, also known as 7DUP. This condition is caused by a tiny extra bit of genetic material on chromosome 7 and can lead to difficulties with development, including social interactions and sometimes autism. The study will follow individuals from childhood through adulthood, using various assessments to track how their social abilities develop. By gathering this important information, scientists hope to learn more about 7DUP and prepare for future studies that might test new treatments. This could ultimately help improve support and care for people living with this syndrome.

At a glance

Status

Not yet recruiting

Phase

Sponsor

Hospices Civils de Lyon

Enrolment target

Start

15 Mar 2026

Estimated completion

15 Jul 2027

7q11.23 Microduplication Syndrome (7DUP)Autism Spectrum Disorder (ASD)Neurodevelopmental Disorders (NDD)

What is this study about?

This study is focused on a rare genetic condition called 7q11.23 microduplication syndrome, often shortened to 7DUP. This happens when there's a small extra piece of genetic material on chromosome 7. People with 7DUP often experience a range of developmental challenges, including difficulties with social interactions, and some may also have autism spectrum disorder. We know that a specific gene, GTF2I, plays a big role in 7DUP, and researchers are exploring treatments that might help, including some drugs previously used for other conditions.

While we're learning more about the genetics of 7DUP, there's still a lot we don't know about *how* social difficulties develop and change over a person's lifetime. This study aims to fill that gap. By carefully observing and assessing individuals with 7DUP from their childhood through to adulthood, researchers want to map out these social development patterns. This information is crucial because understanding these changes will help identify the best times to offer support and potential treatments.

Ultimately, this research is about making sure future studies to test new treatments are as effective as possible. By having a clearer picture of how 7DUP affects social skills at different ages, researchers can design better trials, choose the most helpful ways to measure progress, and find tailored approaches to improve the lives of people with 7DUP.

Key takeaways

This study focuses on 7q11.23 microduplication syndrome (7DUP), a rare genetic condition.
The main goal is to understand how social skills develop across different ages in people with 7DUP.
Participation involves various assessments like medical check-ups, questionnaires, and cognitive tests.
Some participants may have brain MRI scans, but no new medications are given.
Findings will help design better future studies for potential treatments for 7DUP.
Participants must be aged 5-50 years and speak French.

Who may be eligible?

To be part of this study, you would need to have a confirmed diagnosis of 7q11.23 microduplication syndrome. You should be between 5 and 50 years old. It's also important that your main language is French, and that you or your parents/guardians are happy to give written permission to take part and to be told about any findings from the assessments. You or your parents/guardians would also need to be covered by the national health insurance system in France.

There are a few reasons why someone might not be able to join. For example, if you or your parents/guardians don't want to sign the permission forms, or if you don't want to know about any potential findings from the assessments. If you have certain medical devices like a pacemaker or metal implants, or if you have severe claustrophobia, you wouldn't be able to have the MRI scans. Similarly, if you or your parents/guardians don’t want to be informed about any findings from the MRI, you wouldn't be able to have one.

For each person with 7DUP taking part, the researchers will also look at information from people who don't have 7DUP but are of a similar age and gender. This helps them compare and understand the findings better.

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 I have a confirmed diagnosis of 7q11.23 microduplication syndrome?
Am I between 5 and 50 years old?
Is French my main language?
Am I (or my parents/guardians) comfortable signing consent forms and hearing about study results?
Am I (or my parents/guardians) covered by the national health insurance system?
Do I have any medical reasons that might prevent an MRI scan (like a pacemaker or certain metal implants)?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you would undergo several assessments. These would include a general check-up by doctors or nurses, as well as tests to look at your thinking skills, reasoning abilities, and how well you move. Your social skills would also be assessed. You or your parents/guardians would be asked to complete questionnaires about your development and behaviour. Some participants would also have brain scans using a special type of MRI, which can look at both the structure and activity of the brain. There are no medications or experimental treatments involved in this study; it's purely observational to understand the condition better. The study aims to follow individuals over time, though the exact duration for each person isn't specified in this summary. You would have the opportunity to discuss all commitments before agreeing to participate.

Potential risks and benefits

Participating in this study might offer several potential benefits. By providing more information about 7q11.23 microduplication syndrome, you would be helping researchers better understand the condition, which could lead to improved diagnosis, support, and future treatments for others. While there are no direct medical benefits from receiving a new treatment, the assessments might provide insights into your or your child's specific developmental profile. The risks involved are generally low, mainly related to the time commitment for assessments and the potential for discomfort or anxiety during procedures like an MRI scan. It's important to remember that you are free to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (2)

Developmental Anomalies Reference Center, Genetics Department Woman Mother and Child Hospital, University Hospital of Lyon, Hospices Civils de Lyon
Verified postcode
Bron, France
Reference Center of Rare Disease with Intellectual Disability- in Lyon, Woman Mother and Child Hospital, University Hospital of Lyon, Hospices Civils de Lyon
Verified postcode
Bron, France

Common questions

What is 7q11.23 microduplication syndrome (7DUP)?

It's a rare genetic condition caused by having a tiny extra piece of genetic material on chromosome 7.

What are the main goals of this study?

The study aims to understand how social skills develop and change over time in people with 7DUP.

Will I receive any new treatment as part of this study?

No, this study is observational, meaning it's about understanding the condition, not testing new treatments. There are no medications or experimental therapies involved.

What kind of tests will I have?

You'll have clinical check-ups, questionnaires, and assessments of your thinking, reasoning, movement, and social skills. Some participants may also have brain MRI scans.

What is the age range for participants?

Participants must be between 5 and 50 years old.

How to find out more

Dr Massimiliano ROSSI

massimiliano.rossi01@chu-lyon.fr +33 (0)4.27.85.55.72 Official trial record

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