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.
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.
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.
Single group
Ruxolitinib
DrugRuxolitinib (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).
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
Improvement of AA-IGA measure from baseline at week 32.
1\. To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Improvement of DLQI score (adults) from baseline at week 32.
1\. To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Improvement of AASIS score from baseline at week 32.
1\. To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Percentage of hair regrowth at week 32.
1\. To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Click on the lead sponsor to view all of their trials.
