Accepts Healthy Volunteers
Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms
An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.
An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.
Searching Both is inclusive of interventional and observational studies.
|Eligible Ages||12 Years - 50 Years|
- - 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: 1.
- - 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.
- - 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.
- - 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.
- - 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 strong 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 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.
- - Kidney transplant within the last two years.
- - Any history of heart attack or stroke.
- - Any history of lymphoma.
- - Past or current smokers.
- - Not fully vaccinated against COVID-19 in accordance with current CDC definition.
This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.
Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.
Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.
Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.
Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.
The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.
|University of Colorado, Denver|
The person who is responsible for the scientific and technical direction of the entire clinical study.
|Joaquin Espinosa, PhDDavid Norris, MD|
|Principal Investigator Affiliation||Linda Crnic Institute, University of Colorado Anschutz Medical CampusDepartment of Dermatology, University of Colorado Anschutz Medical Campus|
Category of organization(s) involved as sponsor (and collaborator) supporting the trial.
The disease, disorder, syndrome, illness, or injury that is being studied.
|Down Syndrome, Alopecia Areata, Atopic Dermatitis / Eczema, Hidradenitis Suppurativa, Vitiligo, Psoriasis|
|Study Website:||View Trial Website|
Trisomy 21 (T21) is the most common human chromosomal disorder, occurring in ~1/700 live births, leading to the condition known as Down syndrome (DS). Importantly, people with DS display widespread immune dysregulation and over half of adults with T21 are affected by one or more autoimmune conditions, including several immune skin conditions. The driving hypothesis for this study is that hyperactivation of interferon (IFN) signaling leads to myriad immune-driven diseases and immunological phenotypes in people with DS, and that pharmacological inhibition of IFN signaling could have multidimensional therapeutic benefits in this population. This study utilizes Tofacitinib, an FDA-approved drug known to block IFN signaling and several accompanying inflammatory pathways, to reduce IFN signaling in DS and to measure its effects via multidimensional endpoints. Previous studies and current clinical trials indicate that Janus kinase (JAK) inhibitors, such as Tofacitinib, can block inflammatory pathways and may have beneficial effects on immune skin conditions. Further, inhibition of chronically active IFN signaling in DS with Tofacitinib may attenuate other core drivers of immune dysregulation, leading to improvements in other immune diseases and conditions common to DS that are potentially driven by inflammation, such as cognitive deficits. Investigators will test these hypotheses using a battery of immune and molecular assessments, as well as cognitive testing and quality of life measures. This clinical trial evaluates adolescent and adult participants with DS during eight study visits over an approximate five month period. Specific Aims: 1. To define the safety profile of JAK inhibition in people with DS, 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 DS, and. 4. To characterize the impact of JAK inhibition on cognition and quality of life in DS.
Experimental: On Treatment
Tofacitinib 5mg oral tablets twice daily for 16 weeks
Drug: - Tofacitinib
Treatment with oral Tofacitinib for immune mediated skin conditions in adults with Down syndrome
Contact a Trial Team
If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.