RAG1-LV-CD34+ CELLS for Severe combined immunodeficiency (RAG1 deficiency)

Inclusion criteria

• {"criterion_text":"-RAG1-deficient SCID as confirmed by genetic analysis\n-Peripheral blood T cells < 300/μL and/or naïve T cells < 1/μL\n-Age < 2 years\n-Age at least 8 weeks by the time of busulfan and fludarabine administration\n-Lack of an available HLA-matched donor (HLA-identical sibling or 10/10 (A, B, C, DR, DQ) allele-matched (un)related donor)\n-Signed informed consent (parental or guardian)\n-Able to return to the local HSCT centre for follow-up (per protocol) during the 2-year study and the 15-year long-term off study review\n-Absence of peripheral blood naïve CD4+ T cells"}

Exclusion criteria

• {"criterion_text":"-Omenn syndrome\n-Previous allogeneic HSCT\n-Significant organ dysfunction/co-morbidity (including but not limited to): Mechanical ventilation, Shortening fraction on echocardiogram <25%, Renal failure defined as dialysis dependence, uncontrolled seizure disorder.)\n-Any other condition that the investigator considers is a contraindication to collection and/or infusion of transduced cells for that individual or indicate patient's inability to follow the protocol, for example contraindication f to busulfan, major congenital abnormalities, ineligible to receive anaesthesia, or documented refusal or inability of the family to return for scheduled visits.\n-Human immunodeficiency virus (HIV) infection or Human T-cell Leukemia Virus (HTLV) infection."}

Primary endpoints

• {"endpoint_text":"-Overall survival Evaluation of immune reconstitution at Month 6 defined as -Presence of naive CD4+ T cells -Total CD3+ T-cells > 300 cells/µL -Total CD4+ T-cells > 200 cells/µL","definition_or_measurement_approach":"Immune reconstitution at Month 6 defined as: Presence of naive CD4+ T cells; Total CD3+ T-cells > 300 cells/µL; Total CD4+ T-cells > 200 cells/µL"}

Secondary endpoints

• {"endpoint_text":"-Event-free survival (survival without the need for rescue treatment defined as infusion of autologous unmanipulated backup stem cell product and/or allogeneic HSCT)","definition_or_measurement_approach":"Survival without the need for rescue treatment defined as infusion of autologous unmanipulated backup stem cell product and/or allogeneic HSCT"}
• {"endpoint_text":"-Independence from immunoglobulin substitution at Month 24","definition_or_measurement_approach":"Independence from immunoglobulin substitution measured at Month 24"}
• {"endpoint_text":"-Serologic response to vaccination","definition_or_measurement_approach":"Serologic response to vaccination (measurement approach not further specified)"}
• {"endpoint_text":"-Immune system reconstitution o\tT-cell repopulation: -Total CD3+ T-cells > 300 cells/µL (at Month 12, 18, 24, 30, 36, 42, 48, 54, 60) -\tTotal CD4+ T-cells > 200 cells/µL (at Month 12, 18, 24, 30, 36, 42, 48, 54, 60) -\tPresence of naive CD4+ T cells (at Month 12, 18, 24, 30, 36, 42, 48, 54, 60)","definition_or_measurement_approach":"T-cell repopulation measured by Total CD3+ T-cells > 300 cells/µL, Total CD4+ T-cells > 200 cells/µL and presence of naive CD4+ T cells at specified months (12,18,24,30,36,42,48,54,60)"}
• {"endpoint_text":"-o\tB-cell repopulation: -\tTotal B-cell counts (at Month 6, 12, 18, 24, 30, 36, 42, 48, 54, 60) -\tMemory B-cell count (at Month 6, 12, 18, 24, 30, 36, 42, 48, 54, 60) -\tSwitched memory B-cell count (at Month 6, 12, 18, 24, 30, 36, 42, 48, 54, 60)","definition_or_measurement_approach":"B-cell repopulation measured by total B-cell counts, memory B-cell count and switched memory B-cell count at months 6,12,18,24,30,36,42,48,54,60"}
• {"endpoint_text":"-o\t Immune function: -\tLevel of IgG (at Month 6, 12, 18, 24, 36, 48, 60) -\tLevel of IgA (at Month 6, 12, 18, 24, 36, 48, 60) -\tLevel of IgM (at Month 6, 12, 18, 24, 36, 48, 60) -\tIG repertoire and T cell receptor (TCR) repertoire on PBMCs at Month 12","definition_or_measurement_approach":"Immune function assessed by serum IgG, IgA, IgM levels at specified months and IG/TCR repertoire on PBMCs at Month 12"}
• {"endpoint_text":"-Pharmacodynamics o\tVector copy number (VCN) in PBMCs and granulocytes o\tTRECs and KRECs","definition_or_measurement_approach":"Pharmacodynamic assessments include vector copy number (VCN) in PBMCs and granulocytes, and TRECs/KRECs"}
• {"endpoint_text":"-Quality of Life: Change from baseline in PedsQL","definition_or_measurement_approach":"Change from baseline in PedsQL (Pediatric Quality of Life Inventory)"}

Netherlands

Latest Decision Or Authorization Date

14-11-2025

Number Of Sites

1

Number Of Participants

3

Italy

Latest Decision Or Authorization Date

09-12-2024

Number Of Sites

1

Number Of Participants

1

Poland

Latest Decision Or Authorization Date

18-11-2025

Number Of Sites

1

Number Of Participants

1

Spain

Latest Decision Or Authorization Date

19-11-2025

Number Of Sites

1

Number Of Participants

1

Primary sponsor

Full Name

Videja B.V.

Organisation Type

Pharmaceutical company

Country Of Registered Address

Netherlands