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

Recruitingn/aAges any - anyAllIstituto Giannina Gaslini
NCT07889947 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 provi

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📋 Eligibility rules (as published)
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.
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What it tests

  • Not listed
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Where

2 sites
Presidio Azienda Universitaria Ospedaliera Consorziale - Policlinico Bari
Bari, Italy
IRCCS Istituto Giannina Gaslini
Genova, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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