Safety and Efficacy of Tofacitinib for Immune Skin Conditions in Down Syndrome
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.
• 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.