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Clinical Trials in Italy / NCT07889947
Recruiting Observational

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

NCT07889947 · tracked via the Priya Life Science Italy tracker
Sponsor
Istituto Giannina Gaslini
Phase
Observational
Started
2026-03-25
Last updated
2026-10-22

Condition(s) studied

Autoinflammatory DiseaseType 1 Interferonopathies

Study 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.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
Accepted
Inclusion Criteria for Patients with SAVI or COPA * Participants must be at least 1 year of age. * Participants must have genetically confirmed SAVI or COPA with corresponding clinical manifestations. * Written informed consent/assent must be signed by the parent(s)/legal guardian(s) and/or the patient, as applicable. 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 * Participants must be adults (18 years of age or older), or neonates when umbilical cord blood is collected. * Participants must have clinical manifestations of an autoinflammatory disease other than SAVI or COPA, as described in https://doi.org/10.3899/jrheum.2023-1209. * Written informed consent/assent must be signed by the parent(s)/legal guardian(s) and/or the patient, as applicable. Inclusion Criteria for Healthy Control Subjects * Participants must be adults (18 years of age or older), or neonates when umbilical cord blood is collected. * Participants must be healthy, with no acute or chronic medical conditions. * Participants must have no history of autoimmune, inflammatory, or genetic diseases. * Written informed consent must be signed by the participant or the parent(s)/legal guardian(s), as applicable. 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.

Primary outcome measure(s)

  • 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 — through study completion, an average of 2 years

Trial sites (2)

FacilityCityRegionStatus
Presidio Azienda Universitaria Ospedaliera Consorziale - Policlinico Bari Bari Italy Recruiting
IRCCS Istituto Giannina Gaslini Genova Italy Recruiting

More Istituto Giannina Gaslini trials in Italy

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Bone Health in Adults With Duchenne Muscular Dystrophy: A Survey on Osteoporosis, Fractures and Treatment. Recruiting
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases Recruiting
Neuroradiological Features of Noonan Syndrome and Genotype-Phenotype Correlations Recruiting

Other trials for the same condition

A Study to Test How Well BI 3000202 is Tolerated by People With Type 1 Interferonopathies Active, not recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07889947 on ClinicalTrials.gov ↗ ← All trials in Italy