Not yet recruitingOBSERVATIONAL

Translational Potential of ex Vivo Gene Therapy in GM2 Gangliosidosis

This research is investigating a new type of gene therapy for two rare conditions called Tay-Sachs and Sandhoff disease, which are types of GM2 gangliosidosis. These diseases are caused by a problem with an enzyme in the body that helps break down certain fats in the brain. Currently, there's no cure. The study explores taking a person's blood cells, modifying them in the lab to fix the enzyme problem, and then seeing if these modified cells can help the brain. Scientists are testing this in lab dishes using cells from patients. The ultimate goal is to see if this method, called CHS-TGEX, could become a safe and effective treatment for people with these conditions.

At a glance

Status

Not yet recruiting

Sponsor

Assistance Publique - Hôpitaux de Paris

Enrolment target

Start

01 May 2026

Estimated completion

01 Nov 2027

Tay-Sachs Disease Ganglioside Sandhoff Disease Ganglioside

What is this study about?

This research focuses on a group of rare genetic conditions known as GM2 gangliosidosis, which includes Tay-Sachs disease and Sandhoff disease. These conditions happen when the body can't produce enough of a vital enzyme called beta-hexosaminidase. This enzyme's job is to break down a fatty substance called GM2 ganglioside, mostly found in the brain. Without enough of this enzyme, the GM2 ganglioside builds up, leading to serious and progressive damage to the brain and nervous system.

Currently, there isn't a cure for Tay-Sachs or Sandhoff disease, and existing treatments primarily focus on managing symptoms. Scientists are exploring a new approach called "ex vivo gene therapy." This involves taking specific cells from a patient's blood, called hematopoietic stem cells, and genetically modifying them in the lab. The modification aims to equip these cells with the correct instructions to produce the missing beta-hexosaminidase enzyme.

The main goal of this particular project is to see if these modified cells can produce and release the helpful enzyme. Researchers are testing this by growing patient cells in the lab and observing if the modified cells can 'correct' other brain cells by sharing the enzyme. If successful in these early lab tests, this therapy, known as CHS-TGEX, could potentially be developed into a new treatment for people with GM2 gangliosidosis in the future.

Key takeaways

This study explores a potential future gene therapy for Tay-Sachs and Sandhoff disease.
It uses patient blood cells to test a new approach in the lab.
The goal is to develop a better understanding of GM2 gangliosidosis and new treatments.
No treatment is given directly to participants in this research phase.
Participation involves providing a blood sample.
It is open to people aged 5 and over with a confirmed diagnosis.

Who may be eligible?

To be considered for this study, you would need to have a confirmed diagnosis of GM2 gangliosidosis, which means either a test has shown low levels of the beta-hexosaminidase enzyme, or genetic tests have found specific changes in the HEXA or HEXB genes that cause the disease. This study is open to both children and adults aged 5 years and older. Importantly, you would need to be well enough to provide a blood sample, as this is a key part of the research.

There are also some reasons why someone might not be able to participate. For example, if you or your legal guardian do not wish to take part, or if there's a medical reason why taking a blood sample would be difficult or unsafe for you. People who are under legal guardianship or curatorship (where someone else is legally responsible for making decisions for them) might not be able to join. Also, if you don't have standard social security coverage or if you weigh less than 25 kg (for younger participants), you wouldn't be able to take part.

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 Tay-Sachs or Sandhoff disease?
Are you 5 years old or older?
Can you provide a blood sample safely?
Are you able to agree to take part, or can your legal guardian agree for you?
Do you weigh at least 25 kg (if you are a child)?
Are you covered by social security?

Answer every question to see your result.

What does participation involve?

This study primarily involves donating a blood sample. There are no medications to take as part of this specific research, and no further visits beyond the blood sample collection are mentioned. The blood sample will be used in the lab to test the new gene therapy approach on your cells. The total duration of your direct participation would be limited to the time it takes to provide this sample. There is no long-term follow-up for participants in this specific research phase.

Potential risks and benefits

The main potential benefit of this research is that it could help develop a new treatment for Tay-Sachs and Sandhoff disease in the future. While you wouldn't receive a direct treatment in this stage, your contribution is vital for scientific understanding. The main risk associated with participation is minimal and relates to the blood draw itself, which might include slight pain, bruising, or a small risk of infection. You are free to withdraw from the study at any time without giving a reason, and this would not affect your medical care.

Locations (1)

Département de Neurologie
Verified postcode
Paris, France

Common questions

What is GM2 gangliosidosis?

It's a group of rare genetic conditions, including Tay-Sachs and Sandhoff disease, where the body can't break down certain fats in the brain, leading to health problems.

What does 'ex vivo gene therapy' mean?

It means cells are taken from your body, genetically changed in the lab, and then explored to see if they can fix a problem, without putting anything back into your body for this study.

Will I get treated with this new therapy if I join?

No, this study is a lab-based research project using your cells to test a new idea. You will not receive any direct treatment.

How old do I need to be to take part?

You need to be 5 years old or older to be considered for this study.

What exactly will I have to do if I participate?

You will need to provide a blood sample, which will then be used by researchers in the laboratory.

How to find out more

Yann NADJAR, MD

yann.nadjar@aphp.fr 01 42 16 17 52 Official trial record

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