DADA2NCT07882680

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

StatusCompleted

PhaseNot applicable

SponsorIstituto Giannina Gaslini

Primary completionSep 14, 2025

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Record History

All 1 version: 1 with changes below.

Oct 12, 2026 Study First Submitted

Endpoints

Primary

Increase the number of DADA2 diagnoses

Timeframe: Month 36

Functional and phenotypic characterization of the bone marrow in patients with DADA2 and preclinical studies for gene therapy.

Timeframe: Month 36

Develop a Gene Therapy Approach for DADA2

Timeframe: Month 36

Arms and interventions

Subjects undergo bone marrow aspiration and bone marrow biopsy.Experimental

Procedures: bone marrow aspiration and biopsy

Sites

1 site in 1 country

IRCCS Ospedale San RaffaeleMilan, Italy

About this trial

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.

Trial details

Enrollment: 29 participants (actual)
Started: May 31, 2021
Study completion: Sep 14, 2025
Eligibility: 1 day to 65, all sexes, no healthy volunteers
Design: Interventional, open label, diagnostic
Oversight: No data monitoring committee
Conditions: Severe combined immunodeficiency due to adenosine deaminase deficiency, Adenosine Deaminase Deficiency
Collaborators: Ministry of Health, Italy
First posted: Oct 20, 2026
Registry updated: Oct 20, 2026
Last verified: Oct 2026

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