TDD Editorial Board Member Emma Guttman-Yassky, MD, PhD, the Waldman Professor and Chair of Dermatology at Icahn Mount Sinai in New York City, 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 JAK inhibitors in patients with Down syndrome.
“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. 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.”
Emma Guttman-Yassky, MD, PhD
These medications have been approved by the Food and Drug Administration (FDA) for treatment of atopic dermatitis and alopecia areata in adults and adolescents generally but have not been studied specifically in people with Down syndrome.
In addition to cognitive symptoms, people with Down syndrome frequently experience 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.
Dr. Guttman and her team will begin a phase 2 clinical trial to test the long-term dosing regimens of Janus kinase (JAK) inhibitors for a total of 60 weeks of treatment.
The aims of this trial include:
- To define the long-term safety profiles of abrocitinib (Cibinqo, Pfizer) and ritlecitinib (Litfulo, Pfizer), in people with Down syndrome who have moderate-to-severe atopic dermatitis affecting more than or equal to 7% of the surface area of their body; or Down syndrome patients with alopecia areata affecting more than or equal to 25% of their scalp.
- 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.
- To evaluate Down syndrome-specific molecular mechanisms underlying inflammatory skin diseases and the response to selective JAK inhibition.
“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,” says Dr. Guttman in a news release. “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.
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,” says Dr. Guttman.
