Gene therapy for patients with Artemis deficient Severe Combined Immunodeficiency
Official title: A Phase 1/2 Open Label Non Randomized Study, Multicentric, Single Arm Evaluating the Safety and Efficacy of Gene Therapy of the Severe Combined Immunodeficiency (SCID) Caused by Mutations in the Human DCLRE1C Gene (Artemis) by Transplantation of a Single Dose of Autologous CD34+ Cells Transduced ex Vivo With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA
Run by Assistance Publique - Hôpitaux de Paris · NCT05071222 · Data updated 2026-11-12
This study is testing a new gene therapy for patients with a specific type of severe combined immunodeficiency to see if it can help them fight off dangerous infections when they don't have a matching donor for a transplant.
Quick facts
| Phase | Phase1; Phase2 |
|---|---|
| Study type | Interventional |
| Ages | Any age to 47 Months |
| Sex | All |
| Enrollment | 7 (estimated) |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Drugs / interventions | Fludarabine |
| Locations | 1 site (Paris) |
| Status | Recruiting |
| Started | July 19, 2023 |
| Main results expected | November 19, 2041 |
| Study ends | November 19, 2041 |
| Registry record updated | March 27, 2026 |
| Trial ID | NCT05071222 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are children up to 47 months old with confirmed biallelic mutations in the DCLRE1C gene and no available HLA-matched donor.
✕Probably not a fit
Patients who are unwilling to comply with follow-up requirements or have HIV may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study evaluates the safety and efficacy of gene therapy for severe combined immunodeficiency (SCID) caused by mutations in the DCLRE1C gene, known as Artemis. It involves the transplantation of autologous CD34+ cells that have been modified ex vivo with a lentiviral vector to express the DCLRE1C cDNA. The trial is designed for patients who do not have a suitable HLA-matched donor and are at risk of life-threatening infections. The study aims to provide a potential treatment option for these vulnerable patients.
Why it matters
Potential benefit: If successful, this therapy could significantly improve immune function and quality of life for patients with Artemis deficient SCID.
How similar studies have gone: Other studies have shown promise in gene therapy approaches for SCID, indicating potential for success with this novel treatment.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patient to 47 months * SCID patients with confirmed biallelic mutations in the Artemis (DCLRE1C) gene even in the case of leaky forms characterised by a residual activity * Absence of an HLA genoidentical donor or without rapidly available HLA-compatible unrelated donor (within six weeks of diagnosis) * The patient can be treated by gene therapy without delay in case of active life threatening infections compromising the short-term prognosis and for which the delay in finding a phenoidentical donor is incompatible with the patient's condition of health. Active life threatening infections are defined as: viral respiratory infection, CMV infection, adenovirus infection, disseminated BCGitis or other infections grade ≥ 4 according to CTCAE scale * Beneficiary of a social security scheme * Parental, guardian's patient signed informed consent. Exclusion Criteria * Unwillingness to return for follow-up during the first 2 years study and the long term follow-up * HIV-1 or 2 or HTLV1 infections * Hypersensitivity to G-CSF, busulfan or Fludarabine * Unable to tolerate general anesthesia and/or marrow harvest or peripheral blood stem cell collection (apheresis) or insertion of central venous catheter.
Where it's running
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Department of Pediatric Immunology, Hematology and Rheumatology UIHR, Necker-Enfants Malades Hospital
Paris, France Recruiting
Study contacts
- Study coordinator: Marina CAVAZZANA, MD, PhD
- Email: m.cavazzana@aphp.fr
- Phone: +33 144495068
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.