Clinical Research Directory

Expanding the Spectrum of Adenosine Deaminase 2 (ADA2) Deficiency: Towards a Gene Therapy Approach

Sponsor: Istituto Giannina Gaslini

Summary

Adenosine deaminase 2 deficiency (DADA2), caused by autosomal recessive mutations in the ADA2 gene (OMIM: 607575), is an autoinflammatory disease characterized by early-onset inflammatory vasculopathy, stroke, and immunodeficiency (cytopenias and antibody deficiency). Due to its wide clinical variability and heterogeneous presentation, a large proportion of patients with DADA2 remain undiagnosed. Anti-TNF therapy is effective in DADA2 patients with inflammatory vasculopathy; however, its long-term efficacy and safety remain unknown. We propose to: i) Improve the rate of DADA2 diagnosis in Italy and assess the long-term efficacy and safety of currently available treatments (anti-TNF agents, immunosuppressants, and hematopoietic stem cell transplantation \[HSCT\]); ii) Further characterize patients with a predominantly hematological phenotype; iii) Develop a gene therapy approach for patients with DADA2, based on the transfer of the functional ADA2 gene into cells.

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