RecruitingNot ApplicableNCT07261891

Ex Vivo Evaluation of JAK-inhibitor and Gene Therapeutical Approach in JAK-STAT Related Disorders

Ex Vivo Evaluation of JAK-inhibitor and Gene Therapeutical Approach in JAK-STAT Related Disorders (JAKarta Study)


Sponsor

prof. dr. Rik Schrijvers

Enrollment

20 participants

Start Date

Nov 21, 2024

Study Type

INTERVENTIONAL

Conditions

Summary

The investigators want to study the JAK-inhibitors and their impact on the immune system and evaluate the potential of a gene-therapeutic strategy


Eligibility

Min Age: 18 Years

Inclusion Criteria3

  • Cases (A): adult patients presenting with a genetically confirmed or highly suspected disorder leading to an exagerated JAK-STAT pathway.
  • Controls (B): participants eligible for inclusion in this study must fall in one of the following categories:
  • Healthy controls (without immune-mediated disease)

Exclusion Criteria2

  • Children (< 18 years at time of recruitment)
  • Persons unable or unwilling to give informed consent

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Interventions

DIAGNOSTIC_TESTblood sampling

Blood/serum samples will be collected during routine clinical visits at the time of planned peripheral venous blood sampling. Samples will be processed and either used immediately (flow cytometry-based cell sorting, gDNA extraction, in vitro functional assays, primary cell culture or single-cell applications) or stored for later analysis.


Locations(1)

University Hospitals Leuven,

Leuven, Vlaams-Brabant, Belgium

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NCT07261891


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