NCT01410019

Gene Therapy for X-linked Severe Combined Immunodeficiency

Protocol No. 2 of Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self Retroviral Vector - SCID2

• Status: Completed
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 5 (actual)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: Male
• Age: 12 Months
• Healthy volunteers: Not accepted

Summary

X-linked severe combined immunodeficiency (SCID-X1) is an inherited disorder that results in failure of development of the immune system in boys. This trial aims to treat SCID-X1 patients using gene therapy to replace the defective gene.

Detailed description

The objective of this protocol is to reinitiate an ex vivo gene therapy clinical protocol to treat patients with SCID-X1 without HLA identical family donor nor HLA identical unrelated donor (bone marrow and cord blood) available in an adequate time with the clinical conditions of the patient at diagnosis (approximately 6 weeks). This clinical protocol No. 2 of SCID-X1 must be as efficient than the previous one but must involve a risk of insertional mutagenesis significantly reduced as compared to the first protocol. The main purpose of the study is the study of toxicity: tolerance and incidence of serious adverse effects. Secondary goals are the evaluation of immune reconstitution allowing the cure of infections present at the time of gene therapy, assessment of integration sites, and finally the long-term correction of immunosuppression. 1. safety assessment : clinical effects, possible emergence of clonal lymphocyte proliferation, potential activation of proto-oncogene; 2. efficacy assessment of ex vivo transduction of CD34 + hematopoietic stem cells of the patient through the use of retroviral vector pSRS11.EFS.IL2RG.pre; 3. assessment of immune reconstitution : phenotype, number and function of different T, NK and B cells subpopulations; 4. longitudinal evaluation of clinical effects in terms of improvement or complete restoration of immunity; 5. biological efficacy assessment of this new vector SIN, assessment of molecular characteristics of retroviral integration.

Conditions

• X-linked Severe Combined Immunodeficiency

Interventions

Type	Name	Description
OTHER	Gene transfer	Single infusion of autologous CD34+ cells transduced with the self-inactivating (SIN) GAMMARETROVIRAL vector pSRS11.EFS.IL2RG.pre

Timeline

• Start date: 2010-12-01
• Primary completion: 2015-06-16
• Completion: 2015-06-16
• First posted: 2011-08-04
• Last updated: 2026-03-11

Locations

1 site across 1 country: France