Treatment of Atopic Dermatitis and Alopecia Areata With Abrocitinib in Individuals With Down Syndrome

NCT07242638 | Recruiting Phase 2 DMC FDA Drug

• 2 other identifiers: STUDY-25-007731R61AR084210
• Study Type: interventional
• Target: 56
• Locations: 1 country
• Sites: 1

Brief Summary

This is a single-center, open-label, basket phase 2b trial that will enroll Down Syndrome (DS) participants with at least one inflammatory skin condition (Atopic Dermatitis (AD) and/or Alopecia Areata (AA)). Patients will receive Abrocitinib 100 mg daily for 12 weeks. Responders (defined as achieving Eczema Area and Severity Index (EASI) 75 response for AD, or SALT \<= 20 for AA) will be kept on this dose, and non-responders based on these definitions, will initiate 200 mg daily for another 12 weeks. All AD and AA patients will be maintained on the respective dose of Abrocitinib from Week 24 through week 60.

Conditions

Atopic Dermatitis; Alopecia Areata

Keywords

Down Syndrome; Atopic Dermatitis; Alopecia Areata; Abrocitinib

Outcome Measures

Primary Outcomes (1)

• Rate of Serious Adverse Events (SAEs) at Week 24 and Week 60

  Rate of Serious Adverse Events (SAEs) at week 24 and at 60 weeks to assesses the clinical safety of Abrocitinib in patients with DS and AD or AA.

  Week 24 and Week 60

Secondary Outcomes (6)

• Number and Severity of SAEs and TEAEs at Weeks 4, 8, 12

  Weeks 4, 8, 12

• Number of SAEs and TEAEs

  Weeks 16, 28, 36, 48, 60

• Proportion of Participants with AD Reaching EASI 75

  Week 24

• Proportion of Participants with AA reaching SALT ≤ 20

  Week 24

• Change in proportions of participants with AD from baseline to Week 60

  Baseline to Week 60

Study Arms (1)

Open Label Abrocitinib

EXPERIMENTAL

Participants with DS with either AD or AA will be given Abrocitinib 100mg. In the case where patients is not responsive to treatment at Week 12 per protocol defined non-responder criteria, the treatment dosage will change to Abrocitinib 200 mg.

Drug: Abrocitinib

Interventions

Abrocitinib DRUG

All participants will be started on 100mg Abrocitinib daily. Based on clinical response, non-responders will be increased to 200mg daily at week 12. Responders will continue to receive 100 mg dose of Abrocitinib. All AA and AD participants will be maintained on their dose of Abrocitinib through week 60.

Open Label Abrocitinib

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Participants must meet all of the following criteria to be eligible as study participants:
• Male or female participants who are at least 12 years old, for whom signed informed consent can be provided by parent or legal guardian/LAR prior to participation in any study assessments or procedures.
• Diagnosis of Trisomy 21 or translocation Down Syndrome.
• Participant is able to adhere to the study visit schedule and other protocol requirements.
• Females of childbearing potential (FCBP) must have a negative pregnancy test at Screening and Week 0/Baseline. While on investigational product and for at least 28 days after taking the last dose of investigational product (IP), FCBP who engage in activity in which conception is possible must use one of the approved contraceptive options described below: a. Any one of the following highly effective methods: hormonal contraception (oral, injection, implant, transdermal patch, vaginal ring); intrauterine device (IUD); tubal ligation; or partner's vasectomy; or b. Male or female condom (latex condom or non-latex condom NOT made out of natural \[animal\] membrane \[for example, polyurethane\]).
• Participant is judged to be in otherwise good overall health following a detailed medical and medication history, physical examination, and laboratory testing.

You may not qualify if:

• Participants who meet any of the following criteria are not eligible for randomization as study participants:
• Inability or unwillingness of a participant's parent or legal guardian/LAR to give written informed consent or comply with study protocol.
• Participant is pregnant or breastfeeding.
• Participants with AA: A. cause of hair loss is indeterminable and/or they have concomitant causes of alopecia, such as traction, cicatricial, pregnancy-related, druginduced, telogen effluvium, or advanced androgenetic alopecia (i.e. Ludwig Type III or Norwood-Hamilton Stage ≥ V). B. Participant has a history of AA with no evidence of hair regrowth for ≥7 years since the last episode of hair loss
• Participant has increased risk of developing venous thromboembolism, e.g. deep vein thrombosis or pulmonary embolism (history of venous thromboembolism, or first-degree relative with unprovoked venous thromboembolism (i.e. without known underlying cause such as trauma, surgery, immobilization, prolonged travel, pregnancy, hormone use, or plaster cast), that would suggest participant is at increased risk of inherited coagulation disorder (e.g. Factor V Leiden).
• Participant currently has active forms of other inflammatory skin diseases (eg, psoriasis, seborrheic dermatitis, lupus) at the time of Day 1 that would interfere with evaluation of AD or AA.
• Participant was vaccinated or exposed to a live or attenuated vaccine within the 6 weeks prior to Baseline visit, or is expected to be vaccinated or to have household exposure to these vaccines during treatment.
• Participant has a suspected or active lymphoproliferative disorder or malignancy; OR a history of malignancy within 5 years before the Week 0/Baseline assessment, except for completely treated in situ non-melanoma skin and cervical cancers without evidence of metastasis.
• Infection History: • Participant has an active bacterial, viral, or helminth parasitic infection; OR a history of ongoing, recurrent severe infections requiring systemic antibiotics. • Participant has active chronic or acute skin infection requiring treatment with systemic antibiotics, antivirals, antiparasitics, antiprotozoals, or antifungals within 2 weeks prior to Baseline or superficial skin infections within 1 week prior to Baseline. • Participant has a history (single episode) of disseminated herpes zoster or disseminated herpes simplex, or a recurrent (more than one episode of) localized, dermatomal herpes zoster.
• Participant has a history of alcohol or substance abuse within 6 months prior to Day 1 that in the opinion of the investigator will preclude participation in the study.
• Participant with a known or suspected underlying immunodeficiency or immune-compromised state as determined by the investigator.
• Participant has active hepatitis B, hepatitis C, or human immunodeficiency virus (HIV) prior to Baseline.
• Participant has positive or indeterminable PPD or QFT result including participants that completed standard tuberculosis therapy prior to Baseline.
• Past or current medical problems or findings from physical examination or laboratory testing that are not listed above, which, in the opinion of the investigator, may pose additional risks from participation in the study, may interfere with the participant's ability to comply with study requirements or that may impact the quality or interpretation of the data obtained from the study.
• Participant has history of adverse systemic or allergic reactions to any component of the study drug or any safety event deemed "related" to a JAK inhibitor.

Sponsors & Collaborators

• National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS): collaborator
• Icahn School of Medicine at Mount Sinai: lead
• Columbia University: collaborator

Study Sites (1)

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

RECRUITING

MeSH Terms

Conditions

Dermatitis, Atopic; Alopecia Areata; Down Syndrome

Interventions

abrocitinib

Condition Hierarchy (Ancestors)

Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Dermatitis; Skin Diseases; Skin and Connective Tissue Diseases; Skin Diseases, Eczematous; Hypersensitivity, Immediate; Hypersensitivity; Immune System Diseases; Alopecia; Hypotrichosis; Hair Diseases; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Chromosome Disorders

Study Officials

• Emma Guttman, MD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

• Dusan Bogunovic, PhD

  Columbia University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Giselle Singer

CONTACT

212-241-3288; giselle.singer@mssm.edu

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: November 17, 2025
• First Posted: November 21, 2025
• Study Start: January 12, 2026
• Primary Completion (Estimated): March 1, 2027
• Study Completion (Estimated): March 3, 2028
• Last Updated: February 2, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)