Tofacitinib (XELJANZ) for use in Down syndrome in people aged 6 to 22

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 can't join 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 significantly abnormal laboratory values or 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.
• Hospitalization longer than 6 months in the last year.
• History of neurological syndrome that in the opinion of the study doctors would inhibit successful participation in the study.
• Less than 6 weeks post-surgery at Baseline appointment.
• Total vision or hearing loss (with no corrective devices available).
• Participant must be able to attempt the neurodevelopment assessment battery at Baseline and caregiver must be able to complete proxy reports for neurodevelopmental assessments.
• Poor venous access not allowing repeated blood tests or non-compliance with venipuncture requirements.
• Participants may be excluded for other unforeseen reasons at the study doctor's discretion.
• Pregnancy or breastfeeding.
• Use of estrogen-containing oral contraceptives.