“Families often tell us that skin disease affects much more than the skin,” says Benjamin Ungar, MD, Director of the Alopecia Center of Excellence at Mount Sinai and a study investigator. “These diseases can be very uncomfortable to live with, and that can affect your confidence, sleep, school work, and participation in everyday activities.”
Researchers at the Icahn School of Medicine at Mount Sinai and Columbia University Medical Center are conducting a pioneering study to evaluate potential treatments for inflammatory skin diseases in people with Down syndrome. They aim to set new standard-of-care protocols for treating atopic dermatitis (eczema) and alopecia areata in this patient population.
For many people with Down syndrome, skin conditions can be more than an occasional irritation. Chronic inflammation, persistent itching, recurring rashes, and autoimmune hair loss can affect sleep, daily activities, social interactions, and overall quality of life.
Yet despite the burden these conditions place on individuals and families, there has been limited research focused specifically on treating inflammatory skin diseases in the Down syndrome community.
Now, Emma Guttman-Yassky, MD, PhD, Waldman Professor and Chair of Dermatology at the Icahn School of Medicine, together with Dusan Bogunovic, PhD, professor of pediatric immunology at Columbia University Vagelos College of Physicians and Surgeons, are working on a National Institutes of Health (NIH)-sponsored clinical trial examining a medication approved by the Food and Drug Administration, abrocitinib, for atopic skin diseases and alopecia areata in adults and adolescents with Down syndrome
“Given how common inflammatory skin diseases are in this population, particularly atopic dermatitis and alopecia areata, we want to ensure that safe and effective treatments are available, and that we specifically understand the effects that they have on the immune response in people with Down syndrome,” says Dr. Guttman.
Understanding inflammation in Down syndrome
Researchers have increasingly recognized that people with Down syndrome may be more likely to experience inflammatory and autoimmune conditions. Skin disorders, including eczema and other atopic diseases, can be particularly common and difficult to manage, often with higher levels of systemic inflammation in this population.
While many treatments are available for inflammatory skin conditions in the general population, there is still much to learn about how effective these therapies are for people with Down syndrome.
“Families often tell us that skin disease affects much more than the skin,” says Benjamin Ungar, MD, Director of the Alopecia Center of Excellence at Mount Sinai and a study investigator. “These diseases can be very uncomfortable to live with, and that can affect your confidence, sleep, school work, and participation in everyday activities. By studying these conditions more closely, we hope to identify treatment approaches that improve quality of life.”
The trial is designed to help answer important questions about inflammation, treatment response, and long-term management of atopic skin diseases in individuals with Down syndrome.
A study built with the community in mind
What makes this effort unique is its emphasis on community engagement, experts say.
Before launching the study, researchers sought input directly from people with Down syndrome, family members, caregivers, friends, and advocates. The study team believes that listening to those with lived experience is essential to designing research that is meaningful, accessible, and responsive to the needs of the Down syndrome community.
Why participation matters
Clinical trials are the foundation of medical progress. Breakthrough treatments typically begin with patients and families who choose to participate in research.
By enrolling in this study, participants may help researchers:
- Better understand inflammatory skin disease in Down syndrome.
- Evaluate the effectiveness of this treatment in this population.
- Advance scientific knowledge about immune-related conditions in people with Down syndrome.
- Inform future treatment approaches and standards of care.
“Importantly, participation also helps ensure that people with Down syndrome are represented in research,” says Dr. Ungar. “Historically, many populations with unique medical needs have been underrepresented in clinical studies, limiting opportunities to develop evidence-based care tailored to their experiences.”
Looking toward the future
While no single study can answer every question, researchers hope this trial will be an important step toward improving the understanding and treatment of inflammatory skin diseases in individuals with Down syndrome.
“As the study continues, we remain committed to partnering with the Down syndrome community and advancing research that reflects the priorities of patients and families,” says Dr. Ungar.
Interested in learning more?
Email Giselle Singer, Clinical Research Program Director, at giselle.singer@mssm.edu for details about potential enrollment and research opportunities. Our team is working closely with the Down syndrome community to ensure participant experiences and perspectives help in the success of the study and future research efforts.