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Tofacitinib for Immune Skin Conditions in Down Syndrome

NCT04246372 · Status: COMPLETED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 47

Last updated 2025-12-11

Study results available
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Summary

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.

Conditions

Interventions

DRUG

Tofacitinib

Treatment with oral Tofacitinib for immune mediated skin conditions in adults with Down syndrome

Sponsors & Collaborators

  • National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

    collaborator NIH

  • University of Colorado, Denver

    lead OTHER

Principal Investigators

  • Joaquin Espinosa, PhD · Linda Crnic Institute, University of Colorado Anschutz Medical Campus

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
12 Years
Max Age
50 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-10-21
Primary Completion
2024-10-30
Completion
2024-10-30
FDA Drug
Yes

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04246372 on ClinicalTrials.gov