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Combining Gene Editing and iPS to Study and Treat Monogenic Autoinflammatory Diseases
Sponsor: Istituto Giannina Gaslini
Summary
Type I interferonopathies (T1I) are rare autoinflammatory diseases characterized by dysregulated type I interferon signaling, leading to severe multisystem inflammation, including skin and lung involvement. STING-associated vasculopathy with onset in infancy (SAVI) is an autosomal dominant T1I associated with severe systemic inflammation, skin ulcers, and progressive interstitial lung disease. Current treatments are often insufficient, highlighting the need for novel therapeutic strategies. This project aims to develop patient-derived induced pluripotent stem cell (iPSC) models, combined with somatic cell differentiation and 3D organoid technologies, to investigate SAVI pathogenesis and assess the feasibility and efficacy of gene editing (GE). By enabling precise correction of disease-causing mutations, GE may overcome the limitations of conventional gene replacement approaches and provide a proof of concept for future targeted therapies.
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
6
Start Date
2026-03-25
Completion Date
2026-12-31
Last Updated
2026-10-22
Healthy Volunteers
Yes
Locations (2)
Presidio Azienda Universitaria Ospedaliera Consorziale - Policlinico Bari
Bari, Italy
IRCCS Istituto Giannina Gaslini
Genova, Italy