Gene editing and iPS cells to study and treat monogenic autoinflammatory diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational project creates patient-derived iPSC models from individuals with type I interferonopathies and uses somatic differentiation and 3D organoid systems to study disease mechanisms. The study also evaluates whether precise gene editing can correct disease-causing mutations and demonstrate proof-of-concept for targeted therapies. Inclusion focuses on individuals with SAVI or COPA and appropriate control subjects, with consent from participants or guardians. The work is conducted across sites in Bari and Genova under the lead sponsorship of Istituto Giannina Gaslini, in collaboration with national recovery and resilience programs.

Why it matters

Who can join: the full rules

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.

Where it's running

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

Study contacts

• Study coordinator: Marco Gattorno
• Email: marcogattorno@gaslini.org
• Phone: +3901056362315

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Phase 1b safety test of IMSB301 for people with Type 1 interferonopathies

  This trial tests whether IMSB301 is safe and well tolerated when given alone to people with genetically confirmed Type 1 interferonopathies.

  Recruiting Phase 1 ImmuneSensor Therapeutics Inc. · Sydney · NCT07364513

• Personalized lab test to predict the best treatment for rheumatic diseases

  This project tests a lab-based cell assay to see if it can predict which DMARD will work best for adults with autoimmune rheumatic diseases such as RA, PsA, axSpA, and GCA.

  Recruiting University of Bonn · Bonn, North Rhine-Westphalia · NCT07150000

• Collection of biological samples for rare pediatric autoimmune and autoinflammatory diseases

  This study is collecting blood and tissue samples from kids with rare autoimmune diseases to help researchers learn more about these conditions and improve diagnosis.

  Recruiting at 4 sites Hospices Civils de Lyon · Bron, Bron and 12 other locations · NCT06435468

• Unclassified genetic variants in autoinflammatory disease and AA amyloidosis

  This project tries to see if unclear genetic changes found in people with autoinflammatory diseases or AA amyloidosis cause their symptoms by studying blood and sometimes skin samples.

  Recruiting Assistance Publique - Hôpitaux de Paris · Paris · NCT06354322

• Exploring genetic factors in autoimmune and autoinflammatory diseases

  This study is trying to find out how genes affect autoimmune and autoinflammatory diseases, especially VEXAS syndrome, by looking at samples from patients with known or unknown inflammatory conditions.

  Recruiting at 2 sites NYU Langone Health · New York, New York and 1 other locations · NCT06004349

• Profiling blood biomarkers in patients with systemic inflammatory diseases

  This study is testing how different blood markers change over time in people with systemic inflammatory diseases to improve diagnosis and treatment options.

  Recruiting at 4 sites University Hospital, Ghent · Antwerp and 6 other locations · NCT05670301

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.