Adenosine Deaminase Deficiency
Conditions
Keywords
Adenosine deaminase deficiency, Gene therapy
Brief summary
Adenosine deaminase deficiency is an inherited disorder that results in severe abnormalities of the immune system and leaves children unable to fight infection. This trial aims to treat adenosine deaminase deficiency patients using gene therapy.
Interventions
BIOLOGICALIntravenous infusion of transduced cells
Intravenous infusion of transduced cells
Sponsors
Great Ormond Street Hospital for Children NHS Foundation Trust
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
Inclusion criteria
1. Patients who lack a human leukocyte antigen (HLA)-genotypically identical bone marrow donor OR phenotypically matched family or unrelated donor AND who show incomplete immune reconstitution on Polyethylene glycol-modified adenosine deaminase (PEG-ADA) enzyme replacement therapy (defined by absolute CD4+ count \<300 cell/mm3 and who remain on immunoglobulin replacement therapy) 2. Diagnosis of ADA-SCID (Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA)confirmed by DNA sequencing OR by confirmed absence of \<3% of ADA enzymatic activity in peripheral blood or (for neonates) in umbilical cord blood erythrocytes and/or leukocytes or in cultured fetal cells derived from either chorionic villus biopsy or amniocentesis, prior to institution of PEG-ADA replacement therapy 3. Parental/guardian/patient signed informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Immunological reconstitution | 5 years | Measurement of Immunological reconstitution and Metabolic Correction. 5 year follow up of the last patient enrolled into study |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Incidence of adverse reactions | 5 years | Incidence of adverse reactions. 5 year follow up of the last patient enrolled into study |
| Molecular characterisation of gene transfer | 5 years | Molecular characterisation of gene transfer. 5 year follow up of the last patient enrolled into study |
| Normalisation of nutritional status, growth, and development | 5 years | Normalisation of nutritional status, growth, and development. 5 year follow up of the last patient enrolled into study |
Countries
United Kingdom
Outcome results
None listed