An observational study in Autoinflammatory Disease and Type 1 Interferonopathies, sponsored by Istituto Giannina Gaslini. Recruiting at 2 sites in Italy. Per ClinicalTrials.gov, last updated 2026-10-22.
Sponsored by Istituto Giannina Gaslini · Observational
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.
Istituto Giannina Gaslini is the lead sponsor of 50 studies on the registry; 33 are open to participants now.
Counted across the registry records on this site, refreshed daily.
SAVI patients, Case control patients
Inclusion Criteria for Patients with SAVI or COPA
Exclusion Criteria for Patients with SAVI or COPA - Written informed consent/assent has not been signed by the parent(s)/legal guardian(s) and/or the patient, as applicable.
Inclusion Criteria for AID Control Subjects
Inclusion Criteria for Healthy Control Subjects
Exclusion Criteria for Healthy and AID Control Subjects
- Written informed consent has not been signed by the participant or the parent(s)/legal guardian(s), as applicable.
To generate a model of type I interferonopathy to gain insight in STING1 role in nonhematopoietic cells and to explore gene editing as a therapeutic option
Time frame: through study completion, an average of 2 years
To generate an isogenic iPSC line-based in vitro model for the V155M SAVI mutation using CRISPR/Cas9 GE and somatic cell differentiation to study organ-specific pathogenic
Time frame: through study completion, an average of 2 years
To develop a GE therapy approach using CRISPR/Cas9 base editing and CRISPR/Cas9 to obtain in locus gene correction of STING1 mutation in HSCs (Aim 2)
Time frame: through study completion, an average of 2 years
Started Mar 2026 (actual). Primary completion is estimated for Dec 2026, 9 months after the start.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Istituto Giannina Gaslini