Tundra Space

Tundra Space

Clinical Research Directory

Browse clinical research sites, groups, and studies.

Back to Studies
RECRUITING
NCT07889947

Combining Gene Editing and iPS to Study and Treat Monogenic Autoinflammatory Diseases

Sponsor: Istituto Giannina Gaslini

View on ClinicalTrials.gov

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