Not yet recruitingNAINTERVENTIONAL

GENES AND AUTISM - Induced Pluripotent Stem Cells

This research, called "Genes and Autism," aims to understand why autism happens by looking closely at people's genes. Autism affects how people interact and communicate, and while genetics play a part for some, much is still unknown. The study involves taking a blood sample to create special 'stem cells' and 'organoids' in the lab. These are like tiny models that help scientists study how brain cells behave in autism. By comparing people with autism, their family members, and those without autism, researchers hope to uncover the biological roots of the condition. The main goals are to identify more genes linked to autism, understand how these genes affect brain development, and ultimately find new ways to treat or support people with autism. It's a key step towards developing new treatments.

At a glance

Status

Not yet recruiting

Phase

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Enrolment target

450

Start

01 Aug 2026

Estimated completion

01 Aug 2041

Autism Disorder ASD

What is this study about?

Autism spectrum disorder (ASD) affects how people understand the world and interact with others. While we know that genes can play a role in some cases of autism, there's still a lot to learn about what causes it and how it develops. This study, called "Genes and Autism," is designed to help us understand these complex questions.

The researchers want to identify more genes connected to autism and figure out exactly how these genes might lead to autistic traits. To do this, they will take a small blood sample from participants. From this blood, they can create special types of cells in the lab, including 'induced pluripotent stem cells' (iPSCs), which can then be turned into brain cells or tiny 'organoids' that act like miniature brains. These lab-grown cells allow scientists to study how autism affects brain development and function, something that's difficult to do directly in people.

By comparing these cells from people with autism, their family members, and people without autism, the study aims to uncover the basic biological processes involved. This deepen our understanding of autism and could lead to new ways to help people in the future. The project also hopes to find new targets for medicines, using these lab-grown cells to test different treatments before they are tried in people.

Key takeaways

This study explores the genetic causes of autism.
It uses blood samples to create special lab-grown cells to study autism development.
The goal is to understand autism better and find new potential treatments.
Participation involves providing a blood sample and sharing existing health information.
It aims to identify new genes and biological pathways involved in autism.
This research contributes to future therapies, not current treatments.

Who may be eligible?

To join this study, participants must already be part of two specific research projects called "Genes and Autism" (C07-33 or C16-89).

If you're part of project C07-33, you could be eligible if you have autism (diagnosed using specific criteria like DSM-IV), are at least 2 years old, and are well enough for a blood test. Adults without autism, including adult family members, can also join if they are between 18 and 65 and healthy enough for a blood test. Children without autism from age 2 can also participate.

If you're part of project C16-89, you must have an autism diagnosis based on the latest criteria (DSM-5), be at least 24 months old, and be well enough for a blood test. All participants must have UK health insurance or an equivalent system, and if you're under 18 or have a guardian, they will need to give permission.

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.

Are you already part of the "Genes and Autism" C07-33 or C16-89 study?
Do you have autism, or are you a family member of someone with autism, or a healthy control?
Are you at least 2 years old (or between 18-65 for adult controls/relatives)?
Are you generally well enough for a blood test?
Do you have UK social insurance or equivalent health cover?
If under 18, can your parents/guardians give permission?

Answer every question to see your result.

What does participation involve?

If you take part in this study, the main thing you'll be asked to do is provide a blood sample. This sample will be used to create special cells in the laboratory. There are no direct medical treatments or medicines given during this study. The research team will gather detailed information about your health and, if you have autism, your specific symptoms. This is usually done through clinical assessments, cognitive tests (looking at mental abilities), and possibly scans like MRI or EEG. The study focuses on understanding the underlying biology of autism using these cell models, rather than directly treating your autism. You will be followed up as part of the existing "Genes and Autism" protocols you are already in.

Potential risks and benefits

There are no direct medical treatment benefits from taking part in this study, as it's purely for research to understand autism better. However, your participation could significantly help advance our knowledge of autism, potentially leading to new therapies or support strategies in the future. The main risk involves giving a blood sample, which might cause minor discomfort, bruising, or, very rarely, infection. You are free to withdraw from the study at any time without giving a reason, and this will not affect your medical care.

Locations (1)

Hôpital Robert Debré
Verified postcode
Paris, France

Common questions

What is the main goal of this study?

The main goal is to find more genes linked to autism and understand how they work to cause autistic traits, ultimately aiming for new treatments.

What will I have to do if I join?

You will mainly need to provide a small blood sample. The research team will also use existing health information from your previous participation in other "Genes and Autism" studies.

Why do you need blood samples?

Blood samples help researchers create special lab cells that act like brain cells, allowing them to study autism in detail without affecting you directly.

Is this study testing a new drug?

No, this study is not testing a new drug on people. It's a discovery-based study to understand autism and identify potential targets for future treatments.

Who can join this study?

Primarily, people who are already part of existing "Genes and Autism" research projects (C07-33 or C16-89) may be eligible, including people with autism, their family members, and others without autism.

How to find out more

Richard Pr DELORME, Professor

richard.delorme@rdb.aphp.fr 0033140034130 Official trial record

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