Autoinflammatory DiseaseMAGICNCT07889947
Combining Gene Editing and iPS to Study and Treat Monogenic Autoinflammatory Diseases
An observational study of Autoinflammatory Disease and Type 1 Interferonopathies, run by Istituto Giannina Gaslini at 2 sites in Italy.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Autoinflammatory Disease, Type 1 Interferonopathies
- How many people
- 6 participants
- Where
- 2 sitesItaly
- Study dates
- 25 Mar 2026to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: SAVI patients, Case control patients
Who may be able to join
- 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.
- 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.
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- Written informed consent/assent must be signed by the parent(s)/legal guardian(s) and/or the patient, as applicable.
- 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.
Who cannot join
- Written informed consent has not been signed by the participant or the parent(s)/legal guardian(s), as applicable.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy2 sites, 2 recruiting
- Recruiting
Presidio Azienda Universitaria Ospedaliera Consorziale - Policlinico Bari
Bari
Francesco La Torre, +39080 919 8910, reumapedlatorre@gmail.com
- Recruiting
IRCCS Istituto Giannina Gaslini
Genova
Marco Gattorno, marcogattorno@gaslini.org
About this study
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.
- Keywords
- autoinflammatory disease, AID
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| A patient with a genetically confirmed diagnosis of STING-associated vasculopathy | Not described | |
| case controls | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: through study completion, an average of 2 years
Secondary outcomes (2)
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
Measured: 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)
Measured: through study completion, an average of 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Oct 2026
- Study start25 Mar 2026
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autoinflammatory DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Other
- Enrolment
- 6 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Giannina Gaslini
- Sponsor type
- University, hospital or other
- Collaborators
- Piano Nazionale di Ripresa e Resilienza (PNRR)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07889947
- Sponsor's protocol ID
- MAGIC (13943)
- Acronym
- MAGIC
- Status last verified
- Oct 2026
- First submitted
- 12 Oct 2026
- Last updated
- 22 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Combining Gene Editing and iPS to Study and Treat Monogenic Autoinflammatory Diseases
- ClinicalTrials.gov ID
- NCT07889947
- Acronym / sponsor ID
- MAGIC / MAGIC (13943)
- Keywords
- autoinflammatory disease, AID
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- Istituto Giannina GasliniUniversity, hospital or other
- Collaborators
- Piano Nazionale di Ripresa e Resilienza (PNRR)
- Study start
- 25 Mar 2026 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 22 Oct 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| A patient with a genetically confirmed diagnosis of STING-associated vasculopathy | – | – |
| case controls | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- SAVI patients, Case control patients
Key inclusion criteria (11 listed)
- 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.
- Participants must be adults (18 years of age or older), or neonates when umbilical cord blood is collected.
Key exclusion criteria (1 listed)
- Written informed consent has not been signed by the participant or the parent(s)/legal guardian(s), as applicable.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
2 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Oct 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autoinflammatory Disease and Type 1 Interferonopathies, run by Istituto Giannina Gaslini at 2 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 22 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Marco Gattorno (+3901056362315, marcogattorno@gaslini.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Oct 2026.