NCT04246372CompletedPhase 2
Tofacitinib for Immune Skin Conditions in Down Syndrome
Safety and Efficacy of Tofacitinib for Immune Skin Conditions in Down Syndrome
Source: ClinicalTrials.gov · Last updated 11 Dec 2025
Brief summary (registry, in English)
People with Down syndrome (DS) display widespread immune dysregulation, including several immune skin conditions. This study hypothesizes that pharmacological inhibition of the increased interferon (IFN) signaling seen in DS is safe and could improve associated skin conditions. The study evaluates the safety and efficacy treatment with Tofacitinib, an FDA-approved drug known to block IFN signaling, in adolescents and adults with DS and an autoimmune and/or autoinflammatory skin condition. Investigators will also measure the impact of interferon inhibition on a variety of molecular markers, as well as the cognitive abilities and quality of life of participants.
- Status (registry)
- Completed
- Phase (registry)
- Phase 2
- Study type
- Interventional
- Enrollment
- 47 (actual)
- First submitted
- 27 Jan 2020
- Start date
- 21 Oct 2020
- Primary completion date
- 30 Oct 2024
- Lead sponsor
- University of Colorado, Denver
- Diseases
- Atopic dermatitis (eczema), Psoriasis
- NCT number
- NCT04246372
What you commit to
- Study type: Interventional · Phase 2
- Participants enrolled: 47
- From 21 Oct 2020 to the primary completion date, 30 Oct 2024
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Prior treatment with a JAK inhibitor or with an investigational agent, device, or procedure within 21 days of enrollment.
- Concomitant treatment with other immunosuppressants (e.g. corticosteroids, methotrexate) or strong CP3A4 or CYP2C19 inhibitors or inducers (e.g. ketoconazole, fluconazole).
- Intravenous antimicrobial therapy within 3 months of inclusion in the study.
- Kidney transplant within the last two years
Other illness
- Clinically significant chronic or active viral infection including but not limited to HIV, hepatitis, CMV, EBV, HSV.
- Severe renal impairment.
- History of malignant solid tumor cancer within five years prior to study entry or where there is current evidence of recurrent or metastatic disease.
- Known allergies, hypersensitivity, or intolerance to Tofacitinib.
- History of thrombotic disorder.
- Superficial skin infection within 2 weeks of inclusion in the study.
- History of disseminated herpes zoster, disseminated herpes simplex, or recurrent localized dermatomal herpes zoster.
- Any history of heart attack or stroke.
- Any history of lymphoma.
Other
- Weigh less than 40 kg.
- Pregnancy or breast feeding.
- No study partner or legal guardian.
- Vaccination with live attenuated virus within six weeks of inclusion in the study or planned during the study.
- Poor venous access not allowing repeated blood tests or non-compliance with venipuncture requirements.
- Oral antimicrobials within 2 weeks of inclusion in the study.
- Participants may be excluded for other unforeseen reasons at the study doctor's discretion.
- Unable to provide assent in cases where informed consent is obtained from other authorized representative.
- Past or current smokers.
Who the study is looking for
- Males or females with DS between 12 and 50 years of age who weigh at least 40 kg.
- Diagnosis of at least one active immune skin condition, including but not limited to:
- Moderate-to-severe atopic dermatitis
- Alopecia areata affecting at least 25% of the scalp
- Moderate-to-severe hidradenitis suppurativa
- Moderate-to-severe psoriasis
- Moderate-to-severe vitiligo.
- Be willing to avoid pregnancy or fathering children.
- Must present with a study partner or legal guardian who can complete, or assist with completing, study materials as appropriate.
Age in the registry: 12 years to 50 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Linda Crnic Institute for Down Syndrome Coordinator of this site? Confirm its status | Aurora | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.