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Study on Gene Therapy for Severe Combined Immunodeficiency (SCID) Using ARTEGENE in Patients with Artemis Gene Mutations

Verified siteInvestigationalNo placebo
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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying a rare genetic disorder known as Severe Combined Immunodeficiency (SCID), which is caused by mutations in the Artemis gene (DCLRE1C). SCID is a condition where the immune system does not function properly, making it difficult for the body to fight off infections. The treatment being tested in this study is called ARTEGENE, which involves using a patient's own blood stem cells that have been modified with a special virus to correct the genetic defect.

The purpose of the study is to evaluate the safety and effectiveness of this gene therapy treatment. Participants will receive a single dose of their own modified stem cells, which are prepared outside the body and then injected back into the bloodstream. The study will monitor how well the treatment works in improving the immune system's function and whether it helps in reducing infections. The study will also look at any side effects that may occur during the treatment process.

This trial is designed for a small group of patients with SCID who have specific genetic mutations and do not have a suitable donor for a bone marrow transplant. The study will take place over several years to ensure thorough observation of the treatment's long-term effects. Participants will be closely monitored by healthcare professionals throughout the study to ensure their safety and well-being.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial assessment

    The initial assessment involves confirming eligibility for the study. This includes verifying the presence of severe combined immunodeficiency (SCID) caused by mutations in the Artemis gene (DCLRE1C).

    Eligibility criteria include being up to 47 months of age, having no suitable donor available, and having parental or guardian consent.

  2. Step 2

    Preparation for treatment

    Preparation involves a mobilization procedure to collect the patient's own stem cells. These cells are then modified outside the body using a lentiviral vector to express the DCLRE1C gene.

    The modified cells are prepared for transplantation back into the patient.

  3. Step 3

    Conditioning regimen

    A conditioning regimen is administered to prepare the body for the transplantation of the modified stem cells. This step is crucial for the success of the gene therapy.

  4. Step 4

    Transplantation

    The transplantation involves administering a single dose of the modified stem cells, known as ARTEGENE, through an intravenous injection.

    This step aims to introduce the corrected gene into the patient's body to address the genetic deficiency.

  5. Step 5

    Post-transplantation monitoring

    After transplantation, monitoring is conducted to assess the safety and efficacy of the treatment. This includes observing the end of any ongoing infections and the reconstitution of the immune system.

    Adverse events are measured using a standardized scale to ensure patient safety.

Who can join the trial?

6 criteria

  • The patient must be up to 47 months old.
  • The patient must have **Severe Combined Immuno-Deficiency (SCID)** with confirmed **biallelic mutations** in the **Artemis (DCLRE1C) gene**. This includes cases where there is some remaining activity of the gene.
  • There must be no **HLA genoidentical donor** available, or no **HLA-compatible unrelated donor** available quickly (within six weeks of diagnosis). **HLA** refers to a type of genetic matching important for transplants.
  • The patient can receive gene therapy without delay if they have life-threatening infections that affect their short-term health. These infections include serious viral respiratory infections, **CMV infection**, **adenovirus infection**, **disseminated BCGitis**, or other severe infections. **CMV** and **adenovirus** are types of viruses, and **BCGitis** is an infection related to a vaccine.
  • The patient must be covered by a social security scheme.
  • The patient's parent or guardian must sign an informed consent form, which means they agree to the patient participating in the study after understanding the details and risks involved.
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Investigated drugs

ARTEGENE is a gene therapy treatment designed for patients with severe combined immunodeficiency (SCID) caused by mutations in the DCLRE1C gene, also known as Artemis deficiency. This therapy involves using a lentiviral vector to modify the patient's own hematopoietic stem cells. The modified cells are then transplanted back into the patient to help correct the genetic defect and improve immune function.

What is already known about the treatment

ARTEGENE – This medication is administered through a transplantation procedure involving autologous CD34+ cells that have been genetically modified ex vivo with a lentiviral vector. Currently, ARTEGENE is in clinical trials, specifically a Phase 1/2 study, to evaluate its safety and effectiveness. It is primarily intended for patients with Severe Combined Immuno-Deficiency (SCID) caused by mutations in the Artemis gene. The medication works by introducing a functional copy of the DCLRE1C gene into the patient's stem cells, which helps restore the immune system's ability to function properly. ARTEGENE falls under the pharmacological classification of gene therapy products.

Investigated diseases

Severe Combined Immunodeficiency (SCID) caused by biallelic mutations in the Artemis gene (DCLRE1C) – This is a rare genetic disorder characterized by a severely compromised immune system due to mutations in the Artemis gene. Individuals with this condition have a significantly reduced ability to fight off infections because their immune system lacks functional T and B lymphocytes. The disease typically presents in infancy with recurrent infections, failure to thrive, and other complications related to immune deficiency. Without a functioning immune system, even common infections can become severe. The condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. Early diagnosis and intervention are crucial to manage the disease effectively.
Trial detailsLast updated 7 Oct 2026
Age0-17PhasePhase I/IITrial ID2024-513652-15-00Protocol codeD20180302Estimated enrolment7 patientsSponsorAssistance Publique Hopitaux De Paris

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