NCT07889947 Combining Gene Editing and iPS to Study and Treat Monogenic Autoinflammatory Diseases
| NCT ID | NCT07889947 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Istituto Giannina Gaslini |
| Condition | Autoinflammatory Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 6 participants |
| Start Date | 2026-03-25 |
| Primary Completion | 2026-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 6 participants in total. It began in 2026-03-25 with a primary completion date of 2026-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 Criteria
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.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07889947 clinical trial?
This trial is open to participants of all sexes, studying Autoinflammatory Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07889947 currently recruiting?
Yes, NCT07889947 is actively recruiting participants. Contact the research team at marcogattorno@gaslini.org for enrollment information.
Where is the NCT07889947 trial being conducted?
This trial is being conducted at Bari, Italy, Genova, Italy.
Who is sponsoring the NCT07889947 clinical trial?
NCT07889947 is sponsored by Istituto Giannina Gaslini. The trial plans to enroll 6 participants.