Actively Recruiting
Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency
Led by Great Ormond Street Hospital for Children NHS Foundation Trust · Updated on 2023-10-12
5
Participants Needed
1
Research Sites
397 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Severe combined immunodeficiency disorder (SCID) is a heterogeneous group of inherited disorders characterized by a profound reduction or absence of T lymphocyte function, resulting in lack of both cellular and humoral immunity. SCID arises from a variety of molecular defects which affect lymphocyte development and function. The most common form of SCID is an X-linked form (SCID-X1), which accounts for 30-50% of all cases. SCID-X1 is caused by defects in the common cytokine receptor gamma chain, which was originally identified as a component of the high affinity interleukin-2 receptor (IL2RG). Allogeneic haematopoietic stem cell transplantation (HSCT), which replaces the patient's bone marrow with that of a healthy donor, is the only treatment that definitively restores the normal function of the bone marrow. HSCT is the first choice of treatment for patients with signs of bone marrow failure and a fully-matched related donor. However, patients without a fully-matched related donor have much worse overall outcomes from HSCT. This study will investigate whether patients with SCID-X1 without a fully matched related donor may benefit from gene therapy. To do this the investigators propose to perform a phase I/II clinical trial to evaluate the safety and efficacy (effect) of gene therapy for SCID-X1 patients using a lentivirus delivery system containing the IL2RG gene. Up to 5 eligible SCID-X1 patients will undergo mobilisation and harvest of their haematopoietic stem precursor cells (HPSCs). In the laboratory the disabled lentivirus will be used to insert a normal human IL2RG gene into the patient's harvested HPSCs. Patients will receive chemotherapy conditioning prior to cell infusion, in order to enhance grafting. The genetically corrected stem cells will then be re-infused into the patient. Patients will be followed up for 2 years. This trial will determine whether gene therapy for SCID-X1 using a lentiviral vector is safe, feasible and effective
CONDITIONS
Official Title
Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of SCID-X1 based on immunophenotype and lack of T cell function (proliferation to PHA <10% of the lower limit of normal) and confirmed by IL2RG mutation
- No fully matched (HLA identical A, B, C, DR, DQ) related donor
- Male patients younger than 5 years of age
- Signed informed consent
- Willingness to follow up for 15 years after infusion
- If previously treated with allogeneic transplant or gene therapy, documented insufficient graft-derived T cell engraftment
- At least 8 weeks old at the time of busulfan chemotherapy administration
You will not qualify if you...
- Active, therapy-resistant infection with significant organ dysfunction or need for mechanical ventilation
- Abnormal liver function with AST and ALT >10 times normal or Bilirubin >2 mg/dL
- Poor heart function with shortening fraction <25% or ejection fraction <50%
- Renal failure with glomerular filtration rate <30 ml/min/1.73 m2 or dialysis dependence
- Uncontrolled seizure disorder
- Encephalopathy
- Any disorder known to affect DNA repair
- Active malignant disease other than EBV-associated lymphoproliferative disease
- Infection with HIV-1
- Previous allogeneic transplant with cytoreductive chemotherapy
- Major life-threatening congenital anomalies such as unrepaired cyanotic heart disease or severe non-repairable malformations
- Any condition judged by investigators to contraindicate collection or infusion of modified cells or to prevent following the protocol
AI-Screening
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Trial Site Locations
Total: 1 location
1
Great Ormond Street Hospital for Children NHS Foundation Trust
London, Greater London, United Kingdom, WC1N 3JH
Actively Recruiting
Research Team
C
Claire Booth, Dr
CONTACT
K
Karen Oprych, Dr
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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