Artemis (DCLRE1C ) Deficient Severe Combined ImmunodeficiencyPhase 1/2ARTEGENENCT05071222
Safety and Efficacy Study of Transplantation of Autologous CD34+ Cells Transduced With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA in Artemis (DCLRE1C) Deficient Severe Combined Immunodeficiency Patients (ARTEGENE)
A Phase 1/2 study testing ARTEGENE drug product in people with Artemis (DCLRE1C ) Deficient Severe Combined Immunodeficiency, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
The purpose of this study is to evaluate 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… Read more about this study
- Who is it for?
- Ages Up to 47 months
- Conditions the study is for
- Artemis (DCLRE1C ) Deficient Severe Combined Immunodeficiency
- What is being tested?
- ARTEGENE drug product
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 7 participants
- Where
- 1 siteFrance
- Study dates
- 19 Jul 2023to 19 Nov 2041
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 47 months
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Department of Pediatric Immunology, Hematology and Rheumatology UIHR, Necker-Enfants Malades Hospital
Paris, 75015
Despina MOSHOUS, MD, PhD, despina.moshous@aphp.fr
About this study
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
The purpose of this study is to evaluate 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.
- Being tested
- ARTEGENE drug product
- Keywords
- Artemis deficient Severe Combined Immunodeficiency, Severe Combined Immunodeficiency, Gene therapy, Allogeneic hematopoietic stem cells transplantation
- Medical subject headings
- Severe combined immunodeficiency with sensitivity to ionizing radiation, Xeroderma Pigmentosum, Complementation Group F, Severe Combined Immunodeficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ARTEGENE drug productGenetic
Each patient will receive a single intravenous infusion of ARTEGENE drug product at D0.
| Study group | Role | What they receive |
|---|---|---|
| ARTEGENE drug product | Experimental | Autologous purified CD34+ cells transduced with a self-inactivated lentiviral vector, expressing the DCLRE1C gene (alias Artemis) Receives: Genetic: ARTEGENE drug product |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of transplant related mortality
Measured: Up to 100 days post treatment
Incidence of transplant related mortality
Measured: At 6 months post treatment
Transgene copy number on peripheral blood mononuclear cells (PBMCs)
by qPCR
Measured: Up to 15 years post treatment
Transgene copy number on sorted cell populations
Determined on sorted cell populations CD15+,CD14+, CD19+, CD56+ and CD3+ T lymphocytes by qPCR
Measured: Up to 15 years post treatment
Detection of replication-competent lentivirus (RCL)
Measured: 3 months post treatment
Absence of any severe adverse events due to insertional mutagenesis
Measured: Up to 15 years post treatment
Change in Artemis mRNA levels
by RT-qPCR performed on the transduced CD34+ cells in the drug substance and on peripheral blood mononuclear cells (PBMC)
Measured: At Day 0, 12 months and 24 months post treatment
Adverse events
Frequency and severity of clinical AEs and changes in laboratory parameters
Measured: Up to 15 years post treatment
Transgene copy number in the transduced CD34+ cells in the drug substance
by qPCR
Measured: At Day 0
Change in total number of T cells
by flow cytometry
Measured: 6, 12, 24 months post treatment
Change in distribution of different subpopulations
by flow cytometry, according to the WBC count: Naïve and activated/memory CD4+ and CD8+ T cells will be evaluated using CCR7/CD45RA/CD45RO markers. Early thymic emigrants will be monitored by detecting CD31+CD45RA+CD4+ T lymphocytes; Stem cell-like memory CD8+ and CD4+ T cells will be quantified by counting CCR7+CD45RA+CD8+ T cells. Evaluation of the distribution of TCRαβ and TCRγδ T cells
Measured: 6, 12, 24 months post treatment
Change in T lymphocyte in vitro proliferation in the presence of mitogens and antigens
Measured: 6, 12, 24 months post treatment
Change in repertoire of T lymphocytes
via high-throughput sequencing of the TCR
Measured: 12, 24 months post treatment
Evaluation of the B lymphocyte compartment
analysis of the circulating B cell subpopulations by flow cytometry: total CD19+ cells, naive (CD19+IgD+CD27-), switched memory (CD19+IgD-CD27+), marginal zone (CD19+IgD+CD27+), transitional (CD19+IgD+CD27-CD24highCD38+), 21low (CD19+CD38-CD21low). Immunoglobulin levels (IgG, A, M and E) and specific antibody production after immunization (if applicable)
Measured: 6 months post treatment
Evaluation of the B lymphocyte compartment
analysis of the circulating B cell subpopulations by flow cytometry: total CD19+ cells, naive (CD19+IgD+CD27-), switched memory (CD19+IgD-CD27+), marginal zone (CD19+IgD+CD27+), transitional (CD19+IgD+CD27-CD24highCD38+), 21low (CD19+CD38-CD21low). Immunoglobulin levels (IgG, A, M and E) and specific antibody production after immunization (if applicable)
Measured: At 12 months post treatment
Evaluation of the B lymphocyte compartment
analysis of the circulating B cell subpopulations by flow cytometry: total CD19+ cells, naive (CD19+IgD+CD27-), switched memory (CD19+IgD-CD27+), marginal zone (CD19+IgD+CD27+), transitional (CD19+IgD+CD27-CD24highCD38+), 21low (CD19+CD38-CD21low). Immunoglobulin levels (IgG, A, M and E) and specific antibody production after immunization (if applicable)
Measured: At 24 months post treatment
Secondary outcomes (3)
End of ongoing infection before the transplantation
Measured: Up to 15 years post treatment
Kinetics of immune reconstitution
Kinetics of immune reconstitution
Measured: Up to 15 years post treatment
Adverse event
Adverse event will be measured using CTCAE
Measured: Up to 15 years post treatment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Oct 2021
- Study start19 Jul 2023
- Primary completion19 Nov 2041 (estimated)
- Study completion19 Nov 2041 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Artemis (DCLRE1C ) Deficient Severe Combined ImmunodeficiencyStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 7 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Alessandra MAGNANI, MD, PhD, Study director, Department of Biotherapy,LTCG, Necker-Enfants Malades HospitalChantal Lagresle-Peyrou, MD, Study director, Imagine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05071222
- Sponsor's protocol ID
- D20180302
- Other IDs
- 2019-003555-11, 2019
- Acronym
- ARTEGENE
- Status last verified
- Mar 2026
- First submitted
- 27 Aug 2021
- Last updated
- 27 Mar 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT05071222
- Acronym / sponsor ID
- ARTEGENE / D20180302
- Keywords
- Artemis deficient Severe Combined Immunodeficiency, Severe Combined Immunodeficiency, Gene therapy, Allogeneic hematopoietic stem cells transplantation
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 7 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 19 Jul 2023 (actual)
- Primary completion
- 19 Nov 2041 (estimated)
- Study completion
- 19 Nov 2041 (estimated)
- First posted
- 8 Oct 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is to evaluate 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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| ARTEGENE drug product | Experimental | Genetic: ARTEGENE drug productAutologous purified CD34+ cells transduced with a self-inactivated lentiviral vector, expressing the DCLRE1C gene (alias Artemis) |
Who may qualify
- Ages
- Up to 47 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| ARTEGENE drug productEach patient will receive a single intravenous infusion of ARTEGENE drug product at D0. | Genetic | ARTEGENE drug product |
Primary outcome
Incidence of transplant related mortality
Time frame: Up to 100 days post treatment
Incidence of transplant related mortality
Time frame: At 6 months post treatment
Transgene copy number on peripheral blood mononuclear cells (PBMCs)
Time frame: Up to 15 years post treatment
by qPCR
Transgene copy number on sorted cell populations
Time frame: Up to 15 years post treatment
Determined on sorted cell populations CD15+,CD14+, CD19+, CD56+ and CD3+ T lymphocytes by qPCR
Detection of replication-competent lentivirus (RCL)
Time frame: 3 months post treatment
Absence of any severe adverse events due to insertional mutagenesis
Time frame: Up to 15 years post treatment
Change in Artemis mRNA levels
Time frame: At Day 0, 12 months and 24 months post treatment
by RT-qPCR performed on the transduced CD34+ cells in the drug substance and on peripheral blood mononuclear cells (PBMC)
Adverse events
Time frame: Up to 15 years post treatment
Frequency and severity of clinical AEs and changes in laboratory parameters
Transgene copy number in the transduced CD34+ cells in the drug substance
Time frame: At Day 0
by qPCR
Change in total number of T cells
Time frame: 6, 12, 24 months post treatment
by flow cytometry
Change in distribution of different subpopulations
Time frame: 6, 12, 24 months post treatment
by flow cytometry, according to the WBC count: Naïve and activated/memory CD4+ and CD8+ T cells will be evaluated using CCR7/CD45RA/CD45RO markers. Early thymic emigrants will be monitored by detecting CD31+CD45RA+CD4+ T lymphocytes; Stem cell-like memory CD8+ and CD4+ T cells will be quantified by counting CCR7+CD45RA+CD8+ T cells. Evaluation of the distribution of TCRαβ and TCRγδ T cells
Change in T lymphocyte in vitro proliferation in the presence of mitogens and antigens
Time frame: 6, 12, 24 months post treatment
Change in repertoire of T lymphocytes
Time frame: 12, 24 months post treatment
via high-throughput sequencing of the TCR
Evaluation of the B lymphocyte compartment
Time frame: 6 months post treatment
analysis of the circulating B cell subpopulations by flow cytometry: total CD19+ cells, naive (CD19+IgD+CD27-), switched memory (CD19+IgD-CD27+), marginal zone (CD19+IgD+CD27+), transitional (CD19+IgD+CD27-CD24highCD38+), 21low (CD19+CD38-CD21low). Immunoglobulin levels (IgG, A, M and E) and specific antibody production after immunization (if applicable)
Evaluation of the B lymphocyte compartment
Time frame: At 12 months post treatment
analysis of the circulating B cell subpopulations by flow cytometry: total CD19+ cells, naive (CD19+IgD+CD27-), switched memory (CD19+IgD-CD27+), marginal zone (CD19+IgD+CD27+), transitional (CD19+IgD+CD27-CD24highCD38+), 21low (CD19+CD38-CD21low). Immunoglobulin levels (IgG, A, M and E) and specific antibody production after immunization (if applicable)
Evaluation of the B lymphocyte compartment
Time frame: At 24 months post treatment
analysis of the circulating B cell subpopulations by flow cytometry: total CD19+ cells, naive (CD19+IgD+CD27-), switched memory (CD19+IgD-CD27+), marginal zone (CD19+IgD+CD27+), transitional (CD19+IgD+CD27-CD24highCD38+), 21low (CD19+CD38-CD21low). Immunoglobulin levels (IgG, A, M and E) and specific antibody production after immunization (if applicable)
3 secondary outcomes
End of ongoing infection before the transplantation
Time frame: Up to 15 years post treatment
Kinetics of immune reconstitution
Time frame: Up to 15 years post treatment
Adverse event
Time frame: Up to 15 years post treatment
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Mar 2026.
- Individual participant dataSharing planned: No
Related trials for Artemis (DCLRE1C ) Deficient Severe Combined Immunodeficiency
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
RecruitingPhase 1/2
Autologous Gene Therapy for Artemis-Deficient SCID
Severe Combined Immunodeficiency
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Alessandra MAGNANI, MD, PhD study director
Department of Biotherapy,LTCG, Necker-Enfants Malades Hospital
Chantal Lagresle-Peyrou, MD study director
Imagine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing ARTEGENE drug product in people with Artemis (DCLRE1C ) Deficient Severe Combined Immunodeficiency, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Marina CAVAZZANA, MD, PhD (+33 144495068, m.cavazzana@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of transplant related mortality (time frame: Up to 100 days post treatment). The study lists 16 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Mar 2026.