RecruitingPHASE1INTERVENTIONAL

Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency

This study is looking into a new treatment called gene therapy for baby boys aged 8 weeks to 5 years with a rare genetic condition called SCID-X1. This condition severely weakens the immune system. Current treatment involves a bone marrow transplant, but it's harder if a suitable donor isn't found. This new gene therapy involves taking some of the patient's own blood stem cells, adding a working copy of the missing gene in the lab, and then putting these corrected cells back into the child. The aim is to make their immune system work properly. Researchers want to see if this treatment is safe and effective for patients who don't have a fully matched bone marrow donor.

At a glance

Status

Recruiting

Phase

PHASE1

Sponsor

Great Ormond Street Hospital for Children NHS Foundation Trust

Enrolment target

Start

21 Dec 2018

Estimated completion

01 Aug 2026

Severe Combined Immunodeficiency, X-Linked

What is this study about?

Severe Combined Immunodeficiency, X-linked (SCID-X1) is a very serious, inherited condition that mainly affects baby boys. It's often called 'bubble boy disease' because children with SCID-X1 have a severely weakened immune system, meaning they can't fight off even common infections. This happens because of a faulty gene that stops their white blood cells, especially T-cells, from developing properly. Without these crucial immune cells, they are at high risk of life-threatening illnesses.

The usual treatment for SCID-X1 is a bone marrow transplant, where they receive healthy cells from a donor. This can help to rebuild their immune system. However, finding a perfectly matched donor can be very difficult. If a child doesn't have a close family member who is a match, the chances of a successful transplant can be lower.

This study is exploring a new approach called gene therapy for children with SCID-X1 who don't have a perfectly matched donor. Gene therapy aims to correct the problem at its source. Researchers will take some of the child's own blood stem cells, and in the laboratory, they will insert a working copy of the missing gene into these cells. After giving the child some special medication to prepare their body, these 'corrected' cells are then given back to the child. The hope is that these new cells will grow and start producing a healthy immune system, allowing the child to fight off infections. This is a Phase 1 study, meaning the main goal is to check if the treatment is safe and how well it is tolerated.

Key takeaways

This study is testing a new gene therapy for SCID-X1.
It's for baby boys aged 8 weeks to 5 years, specifically those without a matched donor.
The therapy involves correcting a faulty gene in the child's own cells.
The main aim is to check if the treatment is safe and effective.
Participants will need to commit to long-term follow-up appointments.
There are specific health conditions that would prevent participation.

Who may be eligible?

This study is looking for very specific patients. It is for baby boys between 8 weeks and 5 years old who have been diagnosed with SCID-X1 due to a specific gene fault. A very important part of joining is that your child must NOT have a perfectly matched family donor for a bone marrow transplant.

Also, if your child has had a bone marrow transplant or gene therapy before, it must be clear that the treatment didn't fully work and their immune system is still not strong enough. You must also be willing to commit to follow-up appointments for a long time after the treatment.

There are several reasons why a child might not be able to join. These include having a severe, hard-to-treat infection, current major heart, liver or kidney problems, severe uncontrolled seizures, or other very serious birth defects. Children with certain other genetic conditions or serious illnesses like active cancer or HIV cannot 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.

Is your child a boy aged between 8 weeks and 5 years?
Does your child have a confirmed diagnosis of SCID-X1 due to a fault in the IL2RG gene?
Does your child NOT have a fully matched family member who could be a bone marrow donor?
Does your child currently NOT have a severe, hard-to-treat infection or major organ problems?
Are you able and willing to attend follow-up appointments for up to 15 years?

Answer every question to see your result.

What does participation involve?

If your child joins this study, they will first have some tests to confirm their diagnosis and check their overall health. Then, some of their blood stem cells will be collected. This process (called 'mobilisation and harvest') helps to gather the special cells needed for the gene therapy. These collected cells will then be sent to a lab where a healthy gene will be put into them.

Before the corrected cells are given back, your child will receive some special medication called chemotherapy. This helps to make space in their bone marrow for the new cells to grow properly. Afterwards, the genetically corrected stem cells will be given back to your child through a drip, similar to a blood transfusion.

After the treatment, your child will need regular check-ups with the study team for two years to monitor their health, see how well the treatment is working, and check for any side effects. You will also need to agree to follow-up visits for up to 15 years in total.

Potential risks and benefits

This is a new type of treatment, so the potential benefits and risks are not fully known. A potential benefit is that this gene therapy could give your child a working immune system, allowing them to lead a healthier life, especially if a matched donor is not available. However, there are potential risks, including side effects from the chemotherapy given before the treatment, risks associated with the cell collection procedure, and potential, unknown long-term effects of the gene therapy itself. The research team will explain all known risks. Remember, taking part in a clinical trial is always voluntary. You have the right to withdraw your child from the study at any time, for any reason, without it affecting their future medical care.

Locations (1)

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

Great Ormond Street Hospital for Children NHS Foundation Trust
Verified postcode
London, United Kingdom· Recruiting

Common questions

What is SCID-X1?

SCID-X1 is a rare genetic condition that makes a child's immune system very weak, so they can't fight off infections.

What is gene therapy?

Gene therapy aims to fix the faulty gene that causes SCID-X1 by putting a healthy copy of the gene into the child's own cells.

Why is this study only for boys?

SCID-X1 is an 'X-linked' condition, meaning it's primarily passed from mothers to sons and affects boys.

Will my child still need other treatments if this works?

The goal is for the gene therapy to help their immune system work on its own, but their doctors will advise on any further care needed.

How long will my child be followed after the treatment?

Children in this study will be closely monitored for 2 years, with longer-term follow-up for up to 15 years in total.

How to find out more

Claire Booth, Dr

c.booth@ucl.ac.uk 0207 905 2198 Official trial record

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