Clinical Research Directory

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

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.

An Observational LTFU Study for Patients Previously Treated With Autologous ex Vivo Gene Therapy for ADA-SCID

This observational long-term follow-up study is designed to collect safety and efficacy data from ADA-SCID patients previously treated with autologous ex vivo gene therapy products based on the EFS-ADA LV encoding for human adenosine deaminase (ADA) gene (EFS-ADA LV), as part of the OTL-101 clinical development program. No investigational medicinal product will be administered to these patients as part of the OTL-101-6 study.