AuthorisedHuman Pharmacology (Phase I)- First administration to humansInterventional

MUNC13.4 - A phase I/II Open Label non randomized study, monocentric, single arm, evaluating Safety and Efficacy of Gene Therapy of FHL 3 caused by mutations in the human UNC13D gene by transplantation of a single dose of autologous CD34+ cells transduced ex vivo with the UNC13D LV vector expressing the UNC13D cDNA

This study is looking at a new way to treat a serious genetic immune disease called Familial Hemophagocytic Lymphohistiocytosis, or FHL type 3. This condition causes the immune system to work incorrectly. The new treatment is a type of gene therapy where doctors take a patient's own blood stem cells, modify them in the lab to correct the faulty gene (UNC13D), and then put them back into the patient. This is the very first time this treatment is being tried in humans, so the main goals are to make sure it's safe and to see if it can help stop the disease from progressing. The study will carefully monitor patients for any side effects and check how well the new cells are working over time.

At a glance

Status

Authorised

Phase

Human Pharmacology (Phase I)- First administration to humans

Sponsor

Assistance Publique Hopitaux De Paris

Enrolment target

Start

18 Oct 2024

Familial Hemophagocytic Lymphohistiocytosis (FHL)

What is this study about?

This research is a medical study called a clinical trial. It's focused on a rare and serious inherited immune system condition known as Familial Hemophagocytic Lymphohistiocytosis, or FHL type 3. In FHL, the body's immune system doesn't work properly, leading to a dangerous overreaction that can damage organs and tissues. This particular type of FHL is caused by a problem with a specific gene called UNC13D.

The study is testing a new kind of treatment called 'gene therapy'. Imagine that one of your genes has a spelling mistake that causes FHL. Gene therapy aims to correct this. In this study, doctors will take some of a patient's own special blood cells, called CD34+ cells, which live in the bone marrow and can grow into all types of blood cells. In the lab, these cells will be 'fixed' by adding a working copy of the UNC13D gene before being given back to the patient. The hope is that these corrected cells will then grow and produce healthy immune cells, helping the body's immune system to work as it should.

This is a very early-stage trial, meaning it's one of the first times this treatment is being used in people. Because of this, the main things the doctors want to find out are whether the treatment is safe for patients and if it can help them get better. They will be closely watching for any side effects and checking if the corrected cells are taking hold and making a positive difference in the patient's health.

Key takeaways

This study is testing a new gene therapy for FHL type 3.
It uses your own cells, corrected in the lab, to try and fix the faulty gene.
The main goals are to check if the treatment is safe and if it helps.
Being in the study involves hospital visits and long-term monitoring.
It is an early-stage trial, so it's a first for humans.
You can stop participating at any time.

Who may be eligible?

This study is open to both male and female patients of any age who have been diagnosed with Familial Hemophagocytic Lymphohistiocytosis (FHL) type 3, specifically where the condition is caused by problems with the UNC13D gene.

Since this is a gene therapy, participants would need to be well enough to undergo the procedures involved, which include collecting their own bone marrow cells and receiving them back after treatment. Other specific health checks will be done by the study team to ensure it's safe for a patient to join.

It's important to remember that participating in a clinical trial is a big decision, and the study team will discuss all the details and requirements with potential participants and their families.

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 Familial Hemophagocytic Lymphohistiocytosis (FHL) type 3?
Has my FHL type 3 been confirmed to be caused by a problem with the UNC13D gene?
Am I able to undergo medical procedures like blood cell collection and infusions?
Am I willing to commit to regular follow-up visits and tests for at least two years?
Do I understand that this is a new, experimental treatment?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you would first have health checks to make sure the treatment is right for you. Then, doctors would collect some of your own special blood cells (CD34+ cells) from your bone marrow. These cells would be sent to a lab to have the healthy gene added. While this is happening, you might have other treatments to prepare your body for the new gene-corrected cells.

Once the cells are ready, you would receive them back as an infusion, similar to a blood transfusion. After the infusion, you would be closely monitored by the medical team. This involves regular hospital visits, blood tests, and other check-ups to see how you are doing, if the new cells are working, and to watch for any side effects. These check-ups will continue for a long period, potentially up to two years after the treatment, to ensure long-term safety and effectiveness. The full duration of your active involvement with doctors and tests for the study would likely be for at least two years.

Potential risks and benefits

Being part of this study could potentially offer a new treatment option for a very serious condition where current treatments may not be fully effective. The potential benefit is that the gene therapy could correct the underlying problem causing FHL type 3, potentially leading to long-term remission or even a cure. However, like all new treatments, there are potential risks. Because it involves manipulating cells and preparing the body for the new cells, there could be side effects from the procedures or the gene therapy itself. These might include immediate reactions, infections, or longer-term concerns like the possibility of developing other health issues. Doctors will closely monitor for all side effects. You have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (1)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

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Unverified
France

Common questions

What is FHL type 3?

FHL type 3 is a rare, inherited immune condition where the body's immune system overreacts dangerously, potentially damaging organs. It's caused by a faulty UNC13D gene.

What is gene therapy?

Gene therapy aims to fix diseases caused by faulty genes. In this study, it involves correcting the problematic UNC13D gene in your own cells before putting them back into your body.

Is this a new treatment?

Yes, this is a very early-stage trial, meaning it's one of the first times this specific gene therapy is being tried in humans for FHL type 3.

How long will I be in the study?

You will be closely followed for a significant period after treatment, potentially up to two years, to check for safety and how well the treatment is working.

Will I have to stay in the hospital?

You might need to spend time in the hospital for the cell collection, the treatment, and for close monitoring afterwards, with regular visits over time.