Modulation of the Immune System in Down Syndrome for Improved Outcomes and Neurodevelopment - 1

Recruiting now · Phase 2 · Has a placebo group

Conditions studied: Down Syndrome

In brief

This protocol describes a phase 2, double-blind, randomized, placebo-controlled clinical trial for Janus kinase (JAK) inhibition in Down syndrome (DS). This trial will evaluate the safety and efficacy of a 6-month treatment with the JAK1/3 inhibitor tofacitinib (XELJANZ) in individuals ages 6-22 (inclusive) with DS. There will be two main arms for this study: a treatment arm and a placebo control arm. Participants will be randomized into the treatment or placebo arm. Those completing 6 months in the placebo arm may be eligible to participate in a cross-over, open-label extension arm to receive 6 months of tofacitinib treatment. Participants will be evaluated during a Screening visit to determine eligibility, complete a Baseline visit if eligible, and be monitored via safety clinical laboratories and in-person evaluations by study doctors at 1 month, 3 months (mid-point visit) and 6 months (endpoint visit). An interim analysis of safety will be completed by an independent Data and Safety Monitoring Board (DSMB) after 40 participants have completed 6 months of treatment or placebo (20 in each arm).

Key facts

Study ID

NCT07598643

Run by

University of Colorado, Denver

People needed

92

Starts

2026-05-01

Expected to finish

2030-08-01

Last updated by the study team

2026-05-20

Who can join

Age: 6 and older, up to 22. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Individuals with DS aged 6 years (inclusive) to 22 years (inclusive). All forms of DS will qualify, including complete trisomy 21, Robertsonian translocation trisomy 21, partial trisomy 21 (segmental duplication), and/or mosaic trisomy 21.
• Available parent(s) or guardian(s) legally able to sign the consent form and who can complete study materials as appropriate.
• Body weight is at least 10 kgs.

You may not qualify if…

• Prior treatment with a JAK inhibitor or with an investigational agent, device, or procedure within 21 days of enrollment.
• Current or planned use of a JAK inhibitor during the 6-month study period.
• Known allergies, hypersensitivity, or intolerance to tofacitinib.
• Active, uncontrolled, or life-threatening infection that at the determination of the treating physician would preclude safe use of tofacitinib.
• History of gastrointestinal perforation.
• Vaccination with live attenuated virus within six weeks of inclusion in the study or planned during the study.
• Note on vaccines: Participants not yet vaccinated for MMR-V should consider their timeline for MMR-V vaccination. Specifically, the study team recommends MMR-V vaccination as soon as possible and delay study start until 6 weeks after MMR-V vaccinations.
• Concomitant treatment with any of the following:
• Concomitant treatment with other immunosuppressants (e.g., methotrexate, azathioprine, tacrolimus, cyclosporine).
• Strong CYP3A4 inhibitors (e.g., ketoconazole).
• Strong CYP3A4 Inducers (e.g., rifampin).
• Moderate CYP3A4 inhibitor(s) with a strong CYP2C19 inhibitor(s) (e.g., fluconazole).
• Other supplements or medications that at the determination of the treating physician would preclude safe use of tofacitinib.
• Evidence of severe organ dysfunction, including severe renal impairment, that at the determination of the treating physician would preclude safe administration of tofacitinib.
• Any history of leukemia, lymphoma, or unresolved transient myeloproliferative disorder.
• Any current, recurrent, or metastatic forms of cancer.
• Any cancer treatment within five years prior to study entry.
• Known personal history of thrombosis or bleeding disorder.
• History of tuberculosis, disseminated herpes zoster, disseminated herpes simplex, or recurrent localized herpes zoster.
• Intravenous antimicrobial therapy within 3 months of inclusion in the study.
• History of organ or bone marrow transplant.
• History of myocardial infarction or stroke.
• Evidence of lipid disorder, including but not limited to LDL > 190 mg/dL, per discretion of the treating physician.
• Participant received blood or plasma products within 30 days of the Baseline visit.
• Treatment with intravenous immunoglobulin (IVIG) within 8 weeks of the Baseline visit.

Where it is running

• CU Anschutz, Children's Hospital Colorado — Aurora, Colorado, United States (enrolling)

Full record on ClinicalTrials.gov

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