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The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) supports a range of clinical trials studying new and existing interventions for prevention and treatment of arthritis, musculoskeletal, and skin diseases.  Investigators supported by the NIAMS need your help finding individuals to participate in clinical trials.  Participating in clinical trials allows you to play an active role as a volunteer in research and contribute to generating new knowledge about the disease/condition, and potentially future treatments.  The information below is designed to help you quickly learn about actively recruiting research studies for which you or someone you know may be eligible. 

Study Description

Trisomy 21 (T21) causes a different disease spectrum in people with Down syndrome (DS), protecting these individuals from some diseases, while strongly predisposing them to others. For example, >50% of adults with T21 are affected by one or more autoimmune conditions, including a wide range of immune skin conditions. Unfortunately, the mechanisms driving this different disease spectrum are poorly understood, which creates a challenge in the clinical management of DS. The study team recently discovered that T21 causes consistent activation of the interferon (IFN) response across diverse cell types, which is likely due to the fact that four of the six IFN receptors are encoded on chr21.  The study team hypothesizes that hyperactivation of IFN signaling drives immune dysregulation and various pathologies in DS, and that pharmacological inhibition of IFN signaling could have multidimensional therapeutic benefits in this population. Accordingly, this study proposes to complete a first-in-kind clinical trial for a JAK inhibitor in DS.

Specific Aims are: 1. To define the safety profile of JAK inhibition in people with Down syndrome.  2. To determine the impact of JAK inhibition on the immune dysregulation caused by trisomy 21. 3. To define the impact of JAK inhibition on immune skin conditions in Down syndrome.  4. To characterize the impact of JAK inhibition on cognition and quality of life in Down syndrome.


Ages Eligible for Study: 18 Years to 60 Years (Adult)

Sexes Eligible for Study: All

Accepts Healthy Volunteers: No

Inclusion Criteria:

  • Adults with Down syndrome between 18 and 60 years of age.
  • A cytogenetic diagnosis of full T21 or complete unbalanced translocation of chromosome 21.
  • Diagnosis of at least one active immune skin condition, including but not limited to 1) moderate-to-severe atopic dermatitis, 2) any type of alopecia affecting at least 25% of the scalp, 3) moderate-to-severe hidradenitis suppurativa, 4) moderate-to-severe psoriasis, 5) 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.


Exclusion Criteria:

  • Poor venous access not allowing repeated blood tests or non-compliance with venipuncture requirements.
  • 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 CP3A4 or CYP2C19 inhibitors or inducers (e.g. ketoconazole, fluconazole).
  • 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.
  • Intravenous antimicrobial therapy within 3 months of inclusion in the study.
  • Oral antimicrobials within 4 weeks of inclusion in the study.
  • Participants may be excluded for other unforeseen reasons at the study doctor's discretion.


Study Design:

Intervention Model: Single Group Assignment

Masking: None (Open Label)

Primary Purpose: Treatment

Study Location(s):

Linda Crnic Institute for Down Syndrome, Aurora, Colorado, United States, 80045

Study Website:


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