RecruitingNot ApplicableNCT04797260

Phase I/II Clinical Trial Stem Cell Gene Therapy in RAG1-Deficient SCID

Phase I/II Clinical Trial of Autologous Hematopoietic Stem Cell Gene Therapy in RAG1-Deficient Severe Combined Immunodeficiency


Sponsor

Leiden University Medical Center

Enrollment

10 participants

Start Date

Jul 23, 2021

Study Type

INTERVENTIONAL

Conditions

Summary

This study is a prospective, non-randomized, open-label, two-centre phase I/II intervention study designed to treat children up to 24 months of age with RAG1-deficient SCID with an indication for allogeneic hematopoietic stem cell transplantation but lacking an HLA-matched donor. The study involves infusion of autologous CD34+ cells transduced with the pCCL.MND.coRAG1.wpre lentiviral vector (hereafter called RAG1 LV CD34+ cells) in five patients with RAG1-deficient SCID.


Eligibility

Min Age: 8 WeeksMax Age: 24 Months

Inclusion Criteria7

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

Exclusion Criteria11

  • Availability of an HLA-matched donor (HLA-identical sibling or 10/10 (A, B, C, DR, DQ) allele-matched (un)related donor)
  • RAG1 deficiency with peripheral blood T cells > 300/μL and/or naïve T cells > 1/μL
  • Omenn syndrome
  • Previous allogeneic HSCT
  • Significant organ dysfunction/co-morbidity (including but not limited to the ones listed below):
  • Mechanical ventilation
  • Shortening fraction on echocardiogram <25%
  • Renal failure defined as dialysis dependence
  • Uncontrolled seizure disorder
  • Any other condition that the investigator considers is a contraindication to collection and/or infusion of trans-duced 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.
  • Human immunodeficiency virus (HIV) infection or Human T-cell Leukemia Virus (HTLV) infection

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Interventions

GENETICGene therapy

Patients will be infused with autologous CD34+ cells transduced with the pCCL.MND.coRAG1.wpre lentiviral vector (RAG1 LV CD34+ cells).


Locations(7)

The Royal Childrens Hospital

Melbourne, Australia

Ospedale Pediatrico Bambino Gesù

Roma, Italy

Leiden University Medical Center

Leiden, Netherlands

Wroclaw Medical University

Wroclaw, Poland

Hospital Universitari Vall d'Hebron

Barcelona, Spain

Erciyes Üniversitesi TIP Fakültesi

Kayseri, Turkey (Türkiye)

University College London Great Ormond Street

London, United Kingdom

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NCT04797260