Investigating Itacitinib for rare immune disorders caused by genetic mutations

Safety and Efficacy of Itacitinib in treatment of JAK/STAT pathway disorders with activating mutations

NIH-funded research Baylor College of Medicine · NIH-10709714

This study is testing a new drug called Itacitinib to see if it can safely help people with rare immune disorders caused by specific genetic changes, and it's designed for patients who have these conditions and may have tried other treatments before.

Quick facts

Grant typeNIH-funded research
Study typeNIH-funded research
Funding institutionBaylor College of Medicine NIH-funded
Lab location1 site (Houston, United States)
Project IDNIH-10709714 on NIH RePORTER

What this research studies

This research focuses on the safety and effectiveness of Itacitinib, a drug that targets specific immune pathways, in treating rare immune disorders linked to genetic defects in the JAK/STAT signaling pathway. The study employs a phase I/II basket trial approach, allowing for the simultaneous testing of the drug across multiple related conditions, including STAT1-GOF, STAT3-GOF, STAT5b-GOF, and JAK1-GOF disorders. By leveraging existing therapies for new indications, the research aims to provide a more efficient method for developing treatments for these rare diseases. Patients with these genetic mutations may have previously been treated with off-label therapies, and this trial seeks to provide concrete data on the drug's efficacy and safety.

Who could benefit from this research

Good fit: Ideal candidates for this research are individuals diagnosed with rare immune disorders associated with JAK/STAT pathway mutations.

Not a fit: Patients without genetic mutations affecting the JAK/STAT pathway or those with unrelated immune disorders may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could lead to effective, targeted treatments for patients suffering from rare immune disorders caused by specific genetic mutations.

How similar studies have performed: Other research has shown promise in using targeted therapies for similar immune disorders, indicating potential success for this approach.

Where this research is happening

Houston, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Last reviewed 2026-06-10 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.