Gene Therapy ADA Deficiency

Study Overview
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Brief Summary
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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.

Official Title
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Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency

Conditions
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Adenosine Deaminase Deficiency

Intervention / Treatment
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* Biological: Intravenous infusion of transduced cells


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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) 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 Parental/guardian/patient signed informed consent

Ages Eligible for Study
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Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Intravenous infusion of transduced cells<br>Intravenous infusion of transduced cells | Biological: Intravenous infusion of transduced cells<br>* Intravenous infusion of transduced cells<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Immunological reconstitution | Measurement of Immunological reconstitution and Metabolic Correction. 5 year follow up of the last patient enrolled into study | 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Incidence of adverse reactions | Incidence of adverse reactions. 5 year follow up of the last patient enrolled into study | 5 years | 
| Molecular characterisation of gene transfer | Molecular characterisation of gene transfer. 5 year follow up of the last patient enrolled into study | 5 years | 
| Normalisation of nutritional status, growth, and development | Normalisation of nutritional status, growth, and development. 5 year follow up of the last patient enrolled into study | 5 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Adenosine deaminase deficiency, Gene therapy