About Adenosine Deaminase Deficiency
Adenosine Deaminase Deficiency is an autosomal recessive disorder of purine metabolism caused by ADA enzyme deficiency, leading to accumulation of deoxyadenosine and its toxic metabolites that selectively destroy T, B, and NK lymphocytes, resulting in severe combined immunodeficiency. ADA-SCID was the first disease treated with gene therapy and remains a paradigm for ex vivo lentiviral stem cell gene correction, with licensed therapy (Strimvelis) available in Europe. Enzyme replacement therapy with pegylated ADA (elapegademase) provides a bridging option that partially restores immune function without curative intent.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Adenosine Deaminase Deficiency trials.
Confirm ADA enzyme activity level in erythrocytes or lymphocytes and ADA2 mutation status before applying; distinguish ADA1 deficiency (immune) from ADA2 deficiency (vasculopathy) as trials target them separately
Gene therapy trial eligibility typically requires absence of a matched sibling donor and no prior allogeneic transplant; transplant history must be disclosed at screening
Enzyme replacement therapy (ERT) washout period is required for some gene therapy trials; discuss ERT discontinuation risks and timing with your trial coordinator well in advance
Patient Resources
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