Upadacitinib for JAK/STAT Pathway Disorders with Activating Mutations
This study is testing Upadacitinib, a medication, for people aged 12 to 65 who have specific genetic conditions called JAK/STAT pathway disorders. These conditions are caused by an overactive immune signaling pathway due to certain genetic changes (mutations) in genes like JAK1, STAT1, STAT3, STAT5B, or STAT6. The study aims to see how well Upadacitinib works to prevent disease flare-ups and to track any side effects. Participants will receive either Upadacitinib or a placebo (an inactive substance) daily by mouth. To join, you must have a confirmed JAK/STAT mutation and show signs of immune dysregulation. The study plans to enroll 30 participants, but its current status is unclear.
- Study design
- This is a multi-center trial with an initial open-label phase where all participants receive Upadacitinib, followed by a double-blind, placebo-controlled phase. It plans to enroll 30 participants.
- What's involved
- Participants will take Upadacitinib or placebo tablets once daily. During the initial phase, you will have site visits and remote monitoring (phone calls and blood tests) to adjust your dose.
- Compensation
- Not stated in the trial record.
- Follow-up
- The study will track side effects and organ toxicity throughout the entire treatment period, which is 1 year.
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Upadacitinib in Treatment of JAK/STAT Pathway Disorders With Activating Mutations
At a glance
Conditions
Where it's being run
3 sites across 3 statesStudy leadership
- Lisa F Satter, MD · STUDY_CHAIR · Baylor College of Medicine
Who to contact
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Do you actually qualify for this trial?
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Inclusion
Exclusion
What this trial measures
- Treatment Efficacy - TIme to first occurrence of disease reactivationDuring the 8 weeks of the randomized withdrawal phase
All patients that complete the open label dose-escalation phase and are randomized will be included in the efficacy analysis population. Efficacy of the Optimal Tolerated Dose (OTD) will be assessed by comparing the time to first occurrence of disease reactivation using Primary Immune Regulatory Deficiency (PIRD) score during the 8-week Randomized Withdrawal (RW) phase between the Upadacitinib and placebo groups. The PIRD score is a disease scoring method that capture the clinical manifestations of all PIRDs including JAK/STAT GOF disorders. The presence of a disease state and its severity is graded on a scale of 1-5. 1 indicates the absence of the disease. Disease flare is defined as an increase in PIRD score by ≥1 in disease manifestations.
- Safety and Tolerability - Percentage of Patients with Adverse Events of Special InterestThroughout the whole treatment period (1 year)
All patients that receive at least one dose of study drug will be included in the analyses to evaluate safety and tolerability of the study drug. Safety and tolerability will be summarized for each phase of the study and will be assessed primarily based on adverse events of special interest. Assessment of safety and tolerability will primarily be done by calculating the percentage of patients with adverse events of special interest.
- Safety and Tolerability - Percentage of Patients with Organ ToxicityThroughout the whole treatment period (1 year)
All patients that receive at least one dose of study drug will be included in the analyses to evaluate safety and tolerability of the study drug. Safety and tolerability will be summarized for each phase of the study and will be assessed based on organ toxicity. Organ toxicity will be assessed by clinical labs. Assessment of safety and tolerability will primarily be done by calculating the percentage of patients with organ specific toxicities.