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

prof. dr. Rik Schrijvers

Status: Enrolling

Conditions: Primary Immunodeficiency Diseases (PID)

Treatments: Diagnostic Test: blood sampling

Study type: Interventional

Funder types: Other

Identifiers

NCT07261891

S69751

G054022N (Other Grant/Funding Number)

Details and patient eligibility

About

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

Full description

The investigators want to study ex vivo the effect of JAK-inhibitors on the transcriptional profile and immune cell landscape in patients with inborn errors of the JAK-STAT pathway and the ex vivo evaluation of the feasibility of a gene therapeutic approach for STAT1 GOF. Following aspects will be compared:

• To study pSTAT, transcriptional profile and cytokine production on bulk and sorted peripheral blood cell populations following stimulation in the presence or absence of different jakinibs
• To evaluate to what extent jakinibs can normalize the transcriptional in different cell types (or not and identify blind spots of this treatment strategy)
• To evaluate ex vivo the impact of a gene therapeutic approach for STAT1 GOF.

Enrollment: 20 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• 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 criteria

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

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

---

20 participants in 2 patient groups

Patients with a monogenic IEI with an hyperactive JAK-STAT pathway

Other group

Description:

Adult patients presenting with a genetically confirmed or highly suspected disorder leading to an exagerated JAK-STAT pathway.

Treatment:

Diagnostic Test: blood sampling

Healthy controls

Other group

Description:

Healthy controls (without immune-mediated disease)

Treatment:

Diagnostic Test: blood sampling