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
National Institute of Allergy and Infectious Diseases (NIAID)
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.
Description
Study Description: This is a phase 2 open-label study to evaluate the efficacy and safety of the Janus-associated kinase (JAK) inhibitor, ruxolitinib, in severe APECED-associated alopecia areata (AA). Following an 8-week observation period to assess baseline disease state, qualifying participants may be admitted for up to 10 days for an inpatient visit to start receiving twice daily dosing of oral ruxolitinib. The dose will be increased at weeks 8 and 16, but may be maintained or reduced if the participant experiences certain adverse events (AEs). The total duration of the ruxolitinib regimen…
Eligibility
- Age range
- 12–75 years
- Sex
- All
- Healthy volunteers
- Yes
* INCLUSION CRITERIA: For participants with APECED-associated AA: 1. Participant must be able to understand and provide informed consent. 2. Aged \>=12 to \<=75 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 t…
Interventions
- DrugRuxolitinib
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).
Location
- National Institutes of Health Clinical CenterBethesda, Maryland