Alopecia Areata Registry Accomplishments

Abstract

The Alopecia Areata Biobank and Clinical Trials Network (Registry), established in 2000 with funding support from the National Institute of Arthritis and Musculoskeletal and Skin Diseases under award number HHSN268200682279C, was created to collect patient epidemiological data and to provide tissue samples for understanding the pathogenesis of alopecia areata (AA). The National Alopecia Areata Foundation took over financial and administrative responsibility for the Registry in 2012 and continues to enroll patients. Five study centers participate in patient enrollment, sample collection and function as a clinical trials network: University of Texas, Houston, Central site (Dr Madeleine Duvic and Joyce Osei, Registry Coordinator), University of Minnesota (Dr Maria Hordinsky), Columbia University (Dr Angela Christiano), University of California, San Francisco (Dr Vera Price), and University of Colorado (Dr David Norris). The project began with self-registration of individuals with alopecia areata or with a relative with the condition. By mid2014, 10,256 individuals self-enrolled in this ‘‘First Tier’’ of the Registry which involves a short questionnaire. In this First Tier group, 8,260 registrants have alopecia areata, including alopecia universalis (AU), alopecia totalis (AT), persistent patchy alopecia areata (AAP), and transient patchy alopecia areata (AAT). The remainder were either unaffected, unrelated individuals, or unaffected relatives who served as a control group (Table 1). Approximately 30% were adult males and 70% were adult females. For clarification, the terms used for phenotypes of AA are as follows: AU implies 100% hair loss everywhere; AT implies 100% scalp hair loss with or without some body hair loss; AAP implies patchy AA present continually for 41 year; and AAT implies patchy AA present for 6 months–1 year. Of the 10,256 individuals in the First Tier group, 3,869 (38%) have participated in ‘‘Second Tier’’ registration by completing a long detailed questionnaire and physician exam, as well as donating blood or saliva samples. In the Second Tier group 76% have alopecia areata, and the remainder are unaffected, unrelated individuals, or unaffected relatives. The five study centers of the Registry found eight genes that contribute to the onset of AA (Petukhova et al., 2010). Significantly, many genes found to be associated with AA are also associated with other autoimmune diseases, including rheumatoid arthritis, type 1 diabetes and celiac disease—all autoimmune diseases with pre-existing treatments. This discovery uncovered the genetic and immunological factors involved in AA, and is leading the development of drugs that specifically target the mechanisms causing the onset of AA. An example is the selection of the Jak pathways as a target for treatment (Xing et al., 2014). The Registry is also exploring the use of scalp biopsies as possible biomarkers to quantitatively track the disease during clinical trials. The Registry’s database and tissue bank is available to serious investigators for basic research, as well as human clinical trials (www.alopeciaareataregistry.org).