Status:

RECRUITING

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

Lead Sponsor:

Leiden University Medical Center

Collaborating Sponsors:

ZonMw: The Netherlands Organisation for Health Research and Development

Horizon 2020 - European Commission

Conditions:

Severe Combined Immunodeficiency Due to RAG1 Deficiency

Eligibility:

All Genders

8-24 years

Phase:

NA

Brief 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 allo...

Detailed Description

Severe combined immunodeficiency (SCID) is a genetically heterogeneous life-threatening disease characterized by severely impaired T cell development with or without impaired natural killer (NK) and B...

Eligibility Criteria

Inclusion

  • 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

  • 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

Key Trial Info

Start Date :

July 23 2021

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

December 31 2029

Estimated Enrollment :

10 Patients enrolled

Trial Details

Trial ID

NCT04797260

Start Date

July 23 2021

End Date

December 31 2029

Last Update

April 18 2024

Active Locations (7)

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Page 1 of 2 (7 locations)

1

The Royal Childrens Hospital

Melbourne, Australia, 3052

2

Ospedale Pediatrico Bambino Gesù

Roma, Italy

3

Leiden University Medical Center

Leiden, Netherlands, 2300RC

4

Wroclaw Medical University

Wroclaw, Poland, 50-556