RECRUITING

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

Conditions

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (Apeced)Alopecia Areata Aps-1 Aire Jak Autiommunity Hair Loss

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

A Phase 2 Open-Label Study to Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia Areata

Quick Facts

Study Start:2023-01-18

Study Completion:2027-12-01

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT05398809

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:12 Years to 65 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:Yes

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
1. Participant must be able to understand and provide informed consent. 2. Aged \>=12 to \<=65 years. 3. Patients with APECED (genetic or clinical diagnosis) and severe AA (defined as having \>=50% total scalp loss at screening per the SALT score). 4. Duration of hair loss greater than 6 months. 5. No present evidence of hair regrowth. 6. Is na(SqrRoot) ve or unresponsive to other treatments for AA. 7. No treatment for alopecia in the past 2 months prior to study enrollment. 8. Willingness to use valacyclovir prophylaxis for the prevention of herpes viral reactivation. 9. Vaccinations should be up to date in agreement with current CDC immunization guidelines prior to start of ruxolitinib. 10. Proficient in written English. 11. 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: 1. 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. 2. Intrauterine device; intrauterine hormone-releasing system. 3. Two barrier methods (eg, condom with spermicide, diaphragm with spermicide, or cervical cap and spermicide). Internal and external condoms may not be used together. 4. Bilateral tubal ligation. 1. Aged \>=18 years. 2. Lives with the participant. 3. Proficient in written English.	1. Known history of hypersensitivity to ruxolitinib or other JAK inhibitors. 2. History of or active skin disease on the scalp other than AA, such as psoriasis or seborrheic dermatitis. 3. 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. 4. 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. 5. Current or recent use of any investigational drug (within 3 months or 5 half-lives, whichever is longer, prior to screening). 6. Scheduled to participate in another clinical study involving an investigational drug during the course of this study. 7. Use of systemic immunosuppressive or immune-modulating agents within 3 months prior to screening, except systemic steroids 10 mg of prednisone equivalent per day. 8. 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. 9. History of alcohol or drug abuse within 6 months prior to screening. 10. Presence of one or more of the following clinically significant laboratory abnormalities: 1. Serum ALT\>=3 times upper limit of normal (ULN). 2. Serum total bilirubin \>=2 times ULN. 3. ANC\<=1000 cells/microliter. 4. Hemoglobin \<=9.0 g/dL. 5. Platelet count \<=100,000/microliter. 6. Serum creatinine \>=2 times ULN. 11. Planned or anticipated major surgical procedure during the study. 12. Plans to receive any live vaccines within 1 month of the anticipated first dose of ruxolitinib. 13. Known or suspected immunodeficiency disorder besides APECED. 14. History of untreated invasive opportunistic infections (eg, tuberculosis, non-tuberculous mycobacterial infections, histoplasmosis, listeriosis, coccidioidomycosis, pneumocystis pneumonia, aspergillosis) despite infection resolution or otherwise recurrent infections of 15. Untreated latent tuberculosis infection. 16. Infection with HIV. 17. Untreated infection with hepatitis B or C. 18. History of serious bacterial infection within the last 3 months prior to screening, unless treated and resolved with antibiotics, or any chronic bacterial infection (eg, chronic pyelonephritis, osteomyelitis). 19. History of unprovoked DVT, PE, arterial thrombosis, or other thrombotic events. 20. History of stroke, heart attack, or heart failure. 21. History of herpes zoster or cytomegalovirus infection that resolved within 2 months prior to screening. 22. History of basal cell carcinoma, localized squamous cell carcinoma of the skin, or in situ carcinoma of the cervix, unless the participant is in remission and curative therapy was completed at least 12 months prior to screening. 23. History of other malignancies, unless the participant is in remission and curative therapy was completed at least 5 years prior to screening. 24. Planned or anticipated use of any prohibited medications and procedures during the study. 25. Current pregnancy or breastfeeding. 26. Past or current medical problems or findings from physical examination, EKG, 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.

Inclusion Criteria

Exclusion Criteria

1. Participant must be able to understand and provide informed consent.
2. Aged \>=12 to \<=65 years.
3. Patients with APECED (genetic or clinical diagnosis) and severe AA (defined as having \>=50% total scalp loss at screening per the SALT score).
4. Duration of hair loss greater than 6 months.
5. No present evidence of hair regrowth.
6. Is na(SqrRoot) ve or unresponsive to other treatments for AA.
7. No treatment for alopecia in the past 2 months prior to study enrollment.
8. Willingness to use valacyclovir prophylaxis for the prevention of herpes viral reactivation.
9. Vaccinations should be up to date in agreement with current CDC immunization guidelines prior to start of ruxolitinib.
10. Proficient in written English.
11. 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:
1. 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.
2. Intrauterine device; intrauterine hormone-releasing system.
3. Two barrier methods (eg, condom with spermicide, diaphragm with spermicide, or cervical cap and spermicide). Internal and external condoms may not be used together.
4. Bilateral tubal ligation.
1. Aged \>=18 years.
2. Lives with the participant.
3. Proficient in written English.

1. Known history of hypersensitivity to ruxolitinib or other JAK inhibitors.
2. History of or active skin disease on the scalp other than AA, such as psoriasis or seborrheic dermatitis.
3. 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.
4. 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.
5. Current or recent use of any investigational drug (within 3 months or 5 half-lives, whichever is longer, prior to screening).
6. Scheduled to participate in another clinical study involving an investigational drug during the course of this study.
7. Use of systemic immunosuppressive or immune-modulating agents within 3 months prior to screening, except systemic steroids 10 mg of prednisone equivalent per day.
8. 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.
9. History of alcohol or drug abuse within 6 months prior to screening.
10. Presence of one or more of the following clinically significant laboratory abnormalities:
1. Serum ALT\>=3 times upper limit of normal (ULN).
2. Serum total bilirubin \>=2 times ULN.
3. ANC\<=1000 cells/microliter.
4. Hemoglobin \<=9.0 g/dL.
5. Platelet count \<=100,000/microliter.
6. Serum creatinine \>=2 times ULN.
11. Planned or anticipated major surgical procedure during the study.
12. Plans to receive any live vaccines within 1 month of the anticipated first dose of ruxolitinib.
13. Known or suspected immunodeficiency disorder besides APECED.
14. History of untreated invasive opportunistic infections (eg, tuberculosis, non-tuberculous mycobacterial infections, histoplasmosis, listeriosis, coccidioidomycosis, pneumocystis pneumonia, aspergillosis) despite infection resolution or otherwise recurrent infections of
15. Untreated latent tuberculosis infection.
16. Infection with HIV.
17. Untreated infection with hepatitis B or C.
18. History of serious bacterial infection within the last 3 months prior to screening, unless treated and resolved with antibiotics, or any chronic bacterial infection (eg, chronic pyelonephritis, osteomyelitis).
19. History of unprovoked DVT, PE, arterial thrombosis, or other thrombotic events.
20. History of stroke, heart attack, or heart failure.
21. History of herpes zoster or cytomegalovirus infection that resolved within 2 months prior to screening.
22. History of basal cell carcinoma, localized squamous cell carcinoma of the skin, or in situ carcinoma of the cervix, unless the participant is in remission and curative therapy was completed at least 12 months prior to screening.
23. History of other malignancies, unless the participant is in remission and curative therapy was completed at least 5 years prior to screening.
24. Planned or anticipated use of any prohibited medications and procedures during the study.
25. Current pregnancy or breastfeeding.
26. Past or current medical problems or findings from physical examination, EKG, 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.

Contacts and Locations

Study Contact

Michail S Lionakis, M.D.

CONTACT

Not Listed

RepAIREStudyTeam@mail.nih.gov

Principal Investigator

Michail S Lionakis, M.D.

PRINCIPAL_INVESTIGATOR

National Institute of Allergy and Infectious Diseases (NIAID)

Study Locations (Sites)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892

United States

Collaborators and Investigators

Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)

Michail S Lionakis, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Allergy and Infectious Diseases (NIAID)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2023-01-18

Study Completion Date2027-12-01

Study Record Updates

Study Start Date2023-01-18

Study Completion Date2027-12-01

Terms related to this study

Keywords Provided by Researchers

Aps-1
Aire
Jak
Autiommunity
Hair Loss

Additional Relevant MeSH Terms

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (Apeced)
Alopecia Areata