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Mount Sinai secures over $4 million grant from National Institutes of

New York, NY (July 11, 2024) – The Icahn School of Medicine at Mount Sinai is embarking on biomedical research aiming to set new standard-of-care protocols for treating alopecia areata and atopic dermatitis in people with Down syndrome, or trisomy 21.

New York, NY (July 11, 2024) – The Icahn School of Medicine at Mount Sinai is embarking on biomedical research aiming to set new standard-of-care protocols for treating alopecia areata and atopic dermatitis in people with Down syndrome, or trisomy 21.

Emma Guttman-Yassky, MD, PhD, the Waldman Professor and Chair of Dermatology at Icahn Mount Sinai, has been awarded more than $4 million for a five-year National Institutes of Health (NIH) R61/R33 grant to evaluate the long-term safety, efficacy, and mechanisms of medications known as JAK inhibitors in patients with Down syndrome. The medications have been approved by the Food and Drug Administration for treatment of atopic dermatitis and alopecia areata in adults and adolescents generally but have not been studied specifically in people with Down syndrome.

Down syndrome is the most common genetic cause of intellectual disability in the United States, affecting 1 in 700 newborns. In addition to cognitive symptoms, people with Down syndrome frequently experience an increase in inflammatory skin diseases, such as atopic dermatitis and alopecia areata. These individuals also represent a vulnerable population that is seldom included in clinical trials, leaving a void in care protocols aimed specifically at their needs.

 “The Down syndrome population has unique medical challenges and considerations that necessitate evaluating the safety and effectiveness of treatments in studies that focus on this specific population,” said Dr. Guttman. “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 understand the effects that they have on immune modulation in people with Down syndrome.”

An R61/R33 NIH grant is a combined mechanism that supports innovative ideas, taking them from the exploratory stage to practical applications with tangible benefits for patients. Ultimately, the goal of these projects is to improve health outcomes and quality of life

This grant will facilitate a multidisciplinary effort of dermatologists, pediatricians, and internal medicine specialists as well as scientists, and intends to identify novel pathways in patients with Down syndrome, while also testing a novel targeted treatment approach. “We are hoping we will be able to better manage skin inflammation in patients with Down syndrome,” said Dr. Guttman.

Dr. Guttman and her team will begin a phase 2 clinical trial to test the long-term dosing regimens of JAK inhibition for a total of 60 weeks of treatment.

The aims of this trial include:

  1. To define the long-term safety profiles of abrocitinib and ritlecitinib in people with Down syndrome who have moderate-to-severe atopic dermatitis affecting more than or equal to 7 percent of the surface area of their body; or Down syndrome patients with alopecia areata affecting more than or equal to 25 percent of their scalp.
  2. To determine the long-term efficacy of abrocitinib and ritlecitinib for 60 weeks in controlling inflammatory skin diseases in adolescents and adults with Down syndrome.
  3. To evaluate Down syndrome-specific molecular mechanisms underlying inflammatory skin diseases and the response to selective JAK inhibition.


About the Mount Sinai Health System

Mount Sinai Health System is one of the largest academic medical systems in the New York metro area, with 48,000 employees working across eight hospitals, more than 400 outpatient practices, more than 600 research and clinical labs, a school of nursing, and a leading school of medicine and graduate education. Mount Sinai advances health for all people, everywhere, by taking on the most complex health care challenges of our time—discovering and applying new scientific learning and knowledge; developing safer, more effective treatments; educating the next generation of medical leaders and innovators; and supporting local communities by delivering high-quality care to all who need it.

Through the integration of its hospitals, labs, and schools, Mount Sinai offers comprehensive health care solutions from birth through geriatrics, leveraging innovative approaches such as artificial intelligence and informatics while keeping patients’ medical and emotional needs at the center of all treatment. The Health System includes approximately 9,000 primary and specialty care physicians and 11 free-standing joint-venture centers throughout the five boroughs of New York City, Westchester, Long Island, and Florida. Hospitals within the System are consistently ranked by Newsweek’s® “The World’s Best Smart Hospitals, Best in State Hospitals, World Best Hospitals and Best Specialty Hospitals” and by U.S. News & World Report‘s® “Best Hospitals” and “Best Children’s Hospitals.” The Mount Sinai Hospital is on the U.S. News & World Report® “Best Hospitals” Honor Roll for 2023-2024. 

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