GENE THERAPY IN CHILDREN WITH RAG1-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY

Phase 1

• Conditions: Patients with severe combined immunodeficiency (SCID) based on a genetic defect in the Recombinase Activating Gene 1 (RAG1); Therapeutic area: Diseases [C] - Immune System Diseases [C20]

• Registration Number: EUCTR2019-002343-14-NL
• Lead Sponsor: eiden University Medical Center

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2019-07-26
• Last Update Posted: 13 October 2020

Recruitment & Eligibility

• Status: Authorised-recruitment may be ongoing or finished
• Sex: All
• Target Recruitment: 5

Inclusion Criteria

1.RAG1 deficient SCID as confirmed by genetic analysis
2.Peripheral blood T cells < 300/µL and/or naïve T cells < 1/µL
3.Age < 2 years
4.Age at least 8 weeks by the time of busulfan administration
5.lack of an available HLA-matched donor (HLA-identical sibling or 10/10 (A, B, C, DR, DQ) allele-matched (un)related donor)
6.signed informed consent (parental or guardian)
7.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

Are the trial subjects under 18? yes
Number of subjects for this age range: 5
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

1.availability of a HLA-matched donor (HLA-identical sibling or 10/10 (A, B, C, DR, DQ) allele-matched (un)related donor)
2.RAG 1 deficiency with peripheral blood T cells > 300/µL and/or naïve T cells > 1/µL
3.Omenn syndrome
4.Previous allogeneic HSCT
5.Significant organ dysfunction/co-morbidity (including but not limited to the ones listed below)
a.Mechanical ventilation
b.Shortening fraction on echocardiogram <25%
c.Renal failure defined as dialysis dependence
d.Uncontrolled seizure disorder
6.any other medical condition which, in the opinion of the treating physician, would in-terfere with the good conduction of the clinical trial (e.g. contraindications for stem cell harvest or administration of conditioning medication)
7.HIV infection or HTLV infection

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified