Case report: Myocarditis in congenital STAT1 gain-of function.
Frederik Staels, Willem Roosens, Simone Giovannozzi...
https://pubmed.ncbi.nlm.nih.gov/37020552Actively Recruiting
Phase Not Applicable
Age: 18Years +
All Genders
Healthy Volunteers
ID07261891
Ex Vivo Evaluation of JAK-inhibitor and Gene Therapeutical Approach in JAK-STAT Related Disorders (JAKarta Study)
Led by prof. dr. Rik Schrijvers · Updated on 2025-12-03
20
Participants Needed
1
Research Sites
104 weeks
Total Duration
On this page
Sponsors
P
prof. dr. Rik Schrijvers
Lead Sponsor
R
Research Foundation - Flanders (Fonds Wetenschappelijk Onderzoek)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying the effects of JAK-inhibitors on the immune system and exploring a gene therapy approach for disorders related to an overactive JAK-STAT pathway. The study focuses on patients with inherited errors affecting this pathway and aims to understand how these treatments impact immune cell behavior and gene activity. The study includes adult patients with confirmed or suspected genetic disorders causing excessive JAK-STAT activity and healthy controls without immune diseases. Blood samples will be collected during routine visits and used for various lab tests, such as cell sorting, gene analysis, and functional assays. Researchers will compare the effects of different JAK inhibitors and assess the potential of ex vivo gene therapy for STAT1 gain-of-function mutations. Participants will provide blood samples that will be analyzed for changes in STAT phosphorylation, gene expression profiles, and immune cell function over 24 months. The study will monitor how the treatments modify immune responses and the safety and effectiveness of the gene therapy approach. This research aims to improve understanding of these rare immune disorders and their treatment possibilities.
CONDITIONS
Brief Title
Ex Vivo Evaluation of JAK-inhibitor and Gene Therapeutical Approach in JAK-STAT Related Disorders
Who Can Participate
Age: 18Years +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Adult patients with a genetically confirmed or highly suspected disorder causing an exaggerated JAK-STAT pathway
- Healthy controls without immune-mediated disease
- Participants must be able and willing to give informed consent
You will not qualify if you...
- Children under 18 years of age at time of recruitment
- Persons unable or unwilling to give informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Treatment
Duration - Up to 24 months from inclusion
Participants provide blood samples during routine clinical visits to evaluate the effects of JAK-inhibitors and gene therapeutic approaches on immune cells and transcriptional profiles.
Blood sampling during routine clinical visits as planned
Trial Site Locations
Total: 1 location
1
University Hospitals Leuven,
Leuven, Vlaams-Brabant, Belgium, 3000
Actively Recruiting
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Research Team
R
Rik Schrijvers, MD, PhD
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
PARALLEL
Primary Purpose
TREATMENT
Number of Arms
2
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Published Research Related To This Trial
Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints.
Simone Giovannozzi, Jonas Demeulemeester, Rik Schrijvers...
https://pubmed.ncbi.nlm.nih.gov/33679782Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype.
Simone Giovannozzi, Veerle Lemmens, Jelle Hendrix...
https://pubmed.ncbi.nlm.nih.gov/32582194