Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia Areata

NCT05398809 | Recruiting Phase 2

• 2 other identifiers: 10000861000861-I
• Study Type: interventional
• Target: 70
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a problem of the immune system. In people with APECED, the immune system makes a mistake and attacks the body. Some people with APECED have a type of hair loss called alopecia areata (AA). No drugs are approved to treat AA. Objective: To see if a study drug (ruxolitinib) can help hair regrowth in people with APECED-associated AA and if it can improve other symptoms caused by the immune system s attack to the body. Eligibility: People aged 12 to 65 years with APECED and severe AA. Design: Participants will be in this study for up to 10 months. They will have 5 in-person visits and 6 televisits, each about 4 weeks apart. One in-person visit may be up to a 10-day stay in the hospital. The first in-person visit will include screening. Participants will have a physical exam. They will have blood tests. Photographs may be taken of their skin. They will answer questions about their quality of life. Participants will begin taking the study drug during their hospital stay. They will take the pills by mouth twice a day for 8 months. Researchers may take tissue samples from participants scalp, gums, and lower lip. Participants may provide samples of urine, stool, nail clippings, and saliva. They may have an eye exam and an ultrasound exam of their abdomen. Some tests may be repeated in subsequent in-person visits. In telehealth visits, participants will answer questions about how they are feeling. They will describe and send photos of hair regrowth. They will be asked to have blood drawn and the results sent to the researchers.

Conditions

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (Apeced); Alopecia Areata

Keywords

Aps-1; Aire; Jak; Autiommunity; Hair Loss

Outcome Measures

Primary Outcomes (1)

• Response defined as a 30% improvement from baseline in the Severity of Alopecia Tool (SALT) score at 32 weeks.

  To evaluate the efficacy of ruxolitinib on hair regrowth in participants with APECED-associated AA

  32 weeks

Secondary Outcomes (17)

• Improvement of AA-IGA measure from baseline at week 32.

  Week 32

• Improvement of DLQI score (adults) from baseline at week 32.

  Week 32

• Improvement of AASIS score from baseline at week 32.

  Week 32

• Percentage of hair regrowth at week 32.

  Week 32

• Time for participants to achieve SALT30 and SALT50.

  Variable

Study Arms (1)

Ruxolitinib/APECED-AA Patients

EXPERIMENTAL

All participants receiving IP through this protocol (APECED-AA patients)will receive ruxolitinib.

Drug: Ruxolitinib

Interventions

Ruxolitinib DRUG

Ruxolitinib (Jakafi) is approved by the FDA for the treatment of intermediate or high-risk myelofibrosis in adults, polycythemia vera in adults who have had an inadequate response to or are intolerant of hydroxyurea, and acute and chronic graft-versus-host disease in adult and pediatric patients (aged =12 years).

Ruxolitinib/APECED-AA Patients

Eligibility Criteria

• Age: 12 Years - 75 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• For participants with APECED-associated AA:
• Participant must be able to understand and provide informed consent.
• Aged \>=12 to \<=75 years.
• Patients with APECED (genetic or clinical diagnosis) and severe AA (defined as having \>=50% total scalp loss at screening per the SALT score).
• Duration of hair loss greater than 6 months.
• No present evidence of hair regrowth.
• Is na(SqrRoot) ve or unresponsive to other treatments for AA.
• No treatment for alopecia in the past 2 months prior to study enrollment.
• Willingness to use valacyclovir prophylaxis for the prevention of herpes viral reactivation.
• Vaccinations should be up to date in agreement with current CDC immunization guidelines prior to start of ruxolitinib.
• Proficient in written English.
• Participants who can get pregnant or impregnate their partner must agree to use at least one highly effective method of contraception when engaging in sexual activities that can result in pregnancy, starting at screening until 12 weeks after the last dose. Highly effective contraceptive measures include:
• Stable use of combined (estrogen- and progestogen-containing) hormonal contraception (oral, intravaginal, transdermal) or progestogen-only hormonal contraception (oral, injectable, implantable) starting 1 month prior to screening.
• Intrauterine device; intrauterine hormone-releasing system.
• Two barrier methods (eg, condom with spermicide, diaphragm with spermicide, or cervical cap and spermicide). Internal and external condoms may not be used together.

You may not qualify if:

• For participants with APECED-associated AA:
• Known history of hypersensitivity to ruxolitinib or other JAK inhibitors.
• History of or active skin disease on the scalp other than AA, such as psoriasis or seborrheic dermatitis.
• Diagnosis of AA is in question or the pattern of hair loss is such that quantification of hair loss and assessment of regrowth is difficult, eg, patients with androgenic alopecia.
• Treated within the last 2 months with intralesional steroids, systemic steroids, anthralin, squaric acid, diphenylcyclopropenone, tacrolimus, minoxidil, or other medication that, in the opinion of the investigator, may affect hair regrowth.
• Current or recent use of any investigational drug (within 3 months or 5 half-lives, whichever is longer, prior to screening).
• Scheduled to participate in another clinical study involving an investigational drug during the course of this study.
• Use of systemic immunosuppressive or immune-modulating agents within 3 months prior to screening, except systemic steroids 10 mg of prednisone equivalent per day.
• Current use of systemic steroids with daily dose \>10 mg of prednisone equivalent for any reason or steroid burst for \>3 days within 1 month of screening.
• History of alcohol or drug abuse within 6 months prior to screening.
• Presence of one or more of the following clinically significant laboratory abnormalities:
• Serum ALT\>=3 times upper limit of normal (ULN).
• Serum total bilirubin \>=2 times ULN.
• ANC\<=1000 cells/microliter.
• Hemoglobin \<=9.0 g/dL.

Sponsors & Collaborators

• National Institute of Allergy and Infectious Diseases (NIAID): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Polyendocrinopathies, Autoimmune; Alopecia Areata; Alopecia

Interventions

ruxolitinib

Condition Hierarchy (Ancestors)

Endocrine System Diseases; Autoimmune Diseases; Immune System Diseases; Hypotrichosis; Hair Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Study Officials

• Michail S Lionakis, M.D.

  National Institute of Allergy and Infectious Diseases (NIAID)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Michail S Lionakis, M.D.

CONTACT

Not Listed; RepAIREStudyTeam@mail.nih.gov

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 26, 2022
• First Posted: June 1, 2022
• Study Start: January 18, 2023
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: December 1, 2025

Record last verified: 2025-11-26

Locations

US (1)