Registry History

History of the National Alopecia Areata Registry 

The National Alopecia Areata Registry was operated from 2000 to 2015. During this time, more than 11,000 individuals living with alopecia areata and their family members participated in the registry. To date more than 40 studies have utilized Registry data to explore questions about alopecia areata, resulting in a better understanding of the causes of the disease and how it impacts those living with it. The Registry drove research progress and paved the way for the use of JAK inhibitors to treat alopecia areata. Read more about the launch of the Registry and the groundbreaking research that came from it below.

In 2000, the National Alopecia Areata Registry was launched with support from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). Formed through a collaborative partnership between leading hair disease researchers, the Registry provided the opportunity to learn more about alopecia areata. Registries play an important role in advancing knowledge about specific diseases, including the impact of living with a disease, facilitate treatment development, etc. When the National Alopecia Areata Registry was established little was known about alopecia areata and treatment options were limited. “There was no approved therapy for alopecia areata. We all would present our information and findings in meetings but then show a slide that would say there’s no FDA-approved treatment,” explains Maria Hordinsky, MD, a dermatologist and the R.W. Goltz Professor and Vice Chair of Research at the University of Minnesota. “We would list all the different things that had shown some promise, but while the immunological nature of this disease was understood, it was not fully understood.”

Dr. Hordinsky, along with Madeleine Duvic, MD, David Norris, MD, Vera Price, MD and Angela Christiano, PhD, led the development of the Registry, establishing a network of five clinical sites to recruit patients and house biologic samples. The Registry collected data on the epidemiology and impact on quality of life of individuals living with alopecia areata, as well as biologic samples from patients examined at participating sites. “What the registry did is it allowed people to be screened, and the people that contributed to the registry were very well defined,” Dr. Hordinsky says, enabling key investigations of the disease.

In addition to enrolling Registry participants through participating clinical sites, the study team recruited individuals with alopecia areata through conferences and meetings, including the NAAF Annual Conference. Study team members were already involved with NAAF in an advisory capacity, so having a presence at the world’s largest gathering of individuals living with alopecia areata was a logical method for engaging the alopecia areata community about participating in the Registry. Conference attendees had the chance to speak to members of the study team and learn more about the Registry, consent to participate, and provide their data to the registry team.

The quality of the Registry’s data was significant, says Angela Christiano, PhD, one of the Registry team leads. Each patient who provided data and specimens to the Registry was diagnosed with alopecia areata by one of the clinical experts at the five registry sites. “I had 100% certainty that whoever was in the database was diagnosed properly. So even though our numbers were small compared to other registries, the purity of ours was astronomical. Thanks to the care that went into collecting [registry] samples, we got genetic signals that were off the charts.” she said.

How Registry data were used

Registry data were made available to researchers around the world, leading to several major breakthroughs.

The most notable discovery to come from the Registry was the identification of eight genes linked to alopecia areata. Dr. Christiano and her team used Registry samples from 1,054 people with alopecia areata for a genome-wide association study (GWAS) to explore the genetics of the disease. Researchers knew there was an autoimmune component in alopecia areata, but they were looking in the wrong direction, Dr. Christiano said. It was assumed that alopecia areata was close to other dermatological disorders, like eczema and psoriasis. However, with the GWAS study, they learned that alopecia areata was closer to other autoimmune diseases like type 1 diabetes, celiac disease, rheumatoid arthritis and thyroid diseases.

The groundbreaking research was published in the journal Nature in 2010 and made a huge splash in the scientific community. It established alopecia areata as an autoimmune disease with a genetic component. The research also pointed to the underlying pathways involved in the disease, laying the groundwork for investigations into JAK inhibitors that are now approved for treating alopecia areata.

The interest in using the Registry data resulted in over 40 published papers in many scientific and medical journals. The registry data were used in additional GWAS investigations and other studies.  While all the papers were interesting, some findings stood out and spurred on more discussion and research.

Registry data were used in studies addressing a variety of topics related to alopecia areata. Key learnings stemming from use of registry data include:

Genetics

Concordance Rate of alopecia areata in identical twins supports both genetic and environmental factors, authored by T.A. Rodriguez, K.E. Fernandes, K.L. Dresser, and M. Duvic, was published in 2010 in the Journal of the American Academy of Dermatology. This study using data from identical twins included in the registry further explored the genetic factors related to the development of alopecia areata. If alopecia areata was fully genetic, and not influenced by other factors, a study of identical twins would a high rate of alopecia areata among both twins. However, researchers found that the likelihood of both twins developing alopecia areata, called the concordance rate, was only 55%. These results indicated that while alopecia areata has a genetic factor, there must be other triggers, such as environmental factors, as well.

Quality of life

Registry data were also used to advance understanding of how alopecia areata affects people who have it. The Health-Related Quality of Life (HRQoL) in alopecia areata patients-a secondary analysis of the National Alopecia Areata Registry Data, published in 2013 by Q. Shi Q, M. Duvic M, J.S. Osei, and colleagues looked at how alopecia areata affected the physical, emotional, and social aspects of patients’ lives, based on the belief that hair loss can have a significant effect on a patient’s mental health, self-esteem, and daily functioning.

The researchers found that many participants experienced embarrassment, low self-confidence, and social anxiety due to their visible hair loss. This often had an impact on their quality of life because of the stigma they felt. They also found a connection between the amount of hair loss and the impact on quality of life with individuals with more extensive hair loss experiencing a greater impact. This research helped provide a foundation for developing a holistic understanding of alopecia areata.

Building the emotional and psychological issues related to living with alopecia areata, a 2018 study, The Utility and Validity of the Alopecia Areata Symptom Impact Scale in Measuring Disease-Related Symptoms and their Effect on Functioning by  T.R. Mendoza, J. Osei, M. Duvic, utilized the Registry to create a tool to help doctors measure the impact that alopecia areata has on a person’s daily life.

The Alopecia Areata Symptom Impact Scale (AASIS) assesses how symptoms affect a person’s functioning and well-being before, during, and after treatment. It looked at different aspects, including emotional impact, physical discomfort, social interactions, and psychological effects of living with alopecia areata.

Current registry studies 

 While the National Alopecia Areata Registry is no longer active, several registries are currently gathering information about people with alopecia areata and the impact of treatments as research continues.  

•  Corevitas AA Registry: Established in 2021, this registry collects information from routine patient visits with dermatologists in the U.S., with a goal of collecting long-term information, or longitudinal data, on the safety and effectiveness of alopecia areata treatments.  
•  GRASS International Registry: This multi-center international registry founded in 2022 in Ireland collects clinical data from patients who are diagnosed with alopecia areata from dermatologists and researchers, electronic health records from participating practices, and self-reports from patients (surveys, mobile trackers, etc.). 
•   All of Us Program Research Program: This is a project led by the National Institutes of Health with the goal of collecting health information from at least one million people in the U.S. who represent the diversity of the country.  Although not specifically focused on alopecia areata, individuals with alopecia areata have shared their health data with the program, giving researchers the opportunity to include the disease in their analyses. Some recent studies have used data from the All of Us database to look at the link between alopecia areata and allergic conditions and the prevalence of alopecia areata in underrepresented groups. 

Meet the researchers 

Five academic sites took part in the Registry: University of Texas, MD Anderson Cancer Center (the main site); Columbia University; University of Minnesota; University of Colorado; and University of California, San Francisco. The goal was to gather information on various aspects of alopecia areata, including  social impacts (quality of life), epidemiological data (who gets it), and scientific information (genetics).  These Registry leaders were: 

• Angela Christiano, PhD, is the Richard and Mildred Rhodebeck Professor of Dermatology and Professor of Genetics & Development at Columbia University. Renowned for her work on the genetic basis of hair and skin disorders, particularly alopecia areata, her groundbreaking research has helped identify key genes involved in the condition and advanced the development of targeted therapies.  
• Madeleine Duvic, MD, now retired, is a distinguished dermatologist and researcher, formerly at the MD Anderson Cancer Center in Houston. Her expertise is in cutaneous lymphomas, alopecia areata, and other dermatologic diseases.  
• Maria Hordinsky, MD, dermatologist and the R.W. Goltz Professor and Vice Chair of Research at the University of Minnesota. She specializes in hair disorders and neurodermatology, with a focus on alopecia areata.  
• David A. Norris, MD, now retired, was a Professor and Chair of the Department of Dermatology at the University of Colorado Anschutz Medical Campus. He is an internationally renowned investigator in autoimmune skin diseases, particularly vitiligo and alopecia areata. 
• Vera H. Price, MD, now retired, is Professor Emeritus in dermatology at the University of California, San Francisco. Internationally known for her expertise in hair and scalp disorders, especially alopecia areata, Dr. Price has made significant contributions to research on the mechanisms of hair loss and potential treatments. Dr. Price is one of the founders of NAAF. 

Learn more

Read The Importance of the National Alopecia Areata Registry, an article by Dr. Duvic for the alopecia areata community from 2006.

Read an article from the NAAF Newsletter, Gain Insight into the National Alopecia Areata Registry at the NAAF Conference, from 2010