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 or other disease manifestations in APECED. The main aim of this study is 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.
What Does the Study Involve?
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 will receive twice daily dosing of oral ruxolitinib for 8 months. Family members or household contacts of participants will also be enrolled to complete a quality-of-life survey, for comparison with a corresponding patient survey.
Who Can Participate?
Participants aged ≥12 to ≤65 years. Patients with APECED (genetic or clinical diagnosis) and severe AA (defined as having >50% total scalp loss at screening per the SALT score). Patients with duration of hair loss greater than 6 months with no present evidence of hair regrowth. Patients with naïve or unresponsive to other treatments for AA. No treatment for alopecia in the past 2 months prior to study enrollment.
Where Is It Taking Place?
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Is There a Cost?
No cost
Is Compensation Provided?
No compensation
Number of Visits Required
11 visits (5 are in person at the NIH)
Steps To Participate
Please email the RepAIRE Study Team at repairestudyteam@mail.nih.gov or call 301-443-8341. The team will screen potential participants to determine eligibility.
Collaborators
Michail Lionakis, MD
Laurie Brenchley
Leslie Castelo-Soccio, MD
Edward Cowen, MD
Theo Heller, MD
Zohreh Khavandgar, MD
Heidi Kong, MD
M. Theresa Magone, MD
Heather Moorman, MSPH, BSN, RN, CCRP
Keisuke Nagao, MD
Joseph Pechacek, MD
Stefania Pittiluga, MD
Jill Rothschild, MD
Blake Warner, MD
Taura Webb, CRNP
Karen Winer, MD
Monica Taylor, RN, BSN
Cassie Holmes, MS, CRNP, FNP-C
Mark Anderson, MD, Ph.D.
Vasileios Oikonomou, MS, Ph.D.
Julie Segre, Ph.D.
Ron Germain, MD, Ph.D.
John O’Shea, MD
Visit ClinicalTrials.gov for details.
Contact Information
Office: Building 10, CRC Room 11C120, Bethesda, MD 20892
Phone: 301-443-8341
Email: repairestudyteam@mail.nih.gov
Hours: 7:00 am-3:30pm EST Mon-Fri