Archive for May 15th, 2019

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May 15th, 2019 by Global Down Syndrome Foundation

A potential pathway to normalizing the larger problem of immune system dysregulation

Oliver has had alopecia areata since early childhood. (Left Photo Credit: DigPicPhoto)

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May 14, Denver, CO – Researchers and doctors at the Linda Crnic Institute for Down Syndrome (Crnic Institute), the University of Colorado Department of Dermatology, and the Palo Alto Medical Foundation in California have just published the first report of safe and efficacious use of an immune modulatory strategy to treat alopecia areata in individuals with Down syndrome. The drug featured in the publication is called Xeljanz, also known as Tofacitinib, which belongs to a class of drugs known as ‘JAK inhibitors.’

The results in this publication hold promise not only for the treatment of alopecia areata but could possibly hold the key for other autoimmune disorders and ailments found in people with Down syndrome. This research builds upon the Crnic Institute’s groundbreaking discovery that people with Down syndrome have profound immune system dysregulation and autoimmunity associated with chronic activation of a branch of the immune system known as the interferon response.

Alopecia areata is an autoimmune disorder in which the immune system mistakenly attacks the hair follicles, causing hair loss. People with Down syndrome have up to a ten-fold higher risk of developing alopecia areata than the typical population, as well as increased risk of developing many other immune disorders.

The research team studied how the drug Xeljanz impacted two individuals with Down syndrome who have alopecia areata. The scientists discovered a remarkable recovery of hair growth within weeks of beginning treatment, and with no measurable side effects. The study results were published on April 5, 2019 in the Journal of the American Association of Dermatology Case Reports.

“For the past four years, we have been hypothesizing that partially inhibiting the interferon response with specific drugs would have therapeutic benefits for people with Down syndrome, and these two cases clearly support our hypothesis,” said Dr. Espinosa, Executive Director of the Crnic Institute, an affiliate of the Global Down Syndrome Foundation (Global).

Dr. Espinosa and several expert scientists at the Crnic Institute believe that Xeljanz is a drug that could have a wide range of positive effects on a variety of health issues and the overall well-being of people with Down syndrome. Xeljanz is manufactured by Pfizer, Inc. and approved in the United States for use in other immune disorders including rheumatoid arthritis, psoriatic arthritis, and ulcerative colitis. Xeljanz has not yet been approved to treat alopecia areata.

“Clearly, Global and the Crnic Institute are interested in science that will benefit people with Down syndrome today, or at least as soon as possible,” said Michelle Sie Whitten, President and CEO of the Global Down Syndrome Foundation. “The work on interferon and the potential benefit is astounding. However, there is still much research to be done before people start prescribing JAK inhibitors. We need organized clinical trials starting specifically for people with Down syndrome and now our job is to raise that initial investment of $3 million.”

Numerous JAK inhibitors are currently being tested in clinical trials for alopecia areata and other immune diseases in typical people. Despite the fact that people with Down syndrome have a
higher risk of developing alopecia areata, exclusion criteria of these clinical trials typically make
it near impossible for a person with Down syndrome to participate.

“The next step is to design and launch a proper clinical trial for JAK inhibitors specifically for people with Down syndrome. This will take a significant amount of resources and effort, as well
as strong participation from self-advocates and their families, but it is clearly the right thing to do
at this time. The fact that people with Down syndrome have been excluded from previous
clinical trials is unacceptable,” Dr. Espinosa said.

Much of the science supported by Global and the Crnic Institute focuses on why people with Down syndrome have a radically different disease spectrum and therefore are highly predisposed to diseases such as Alzheimer’s disease and autoimmune disorders but are also highly protected from diseases such as solid tumor cancers. To learn more about the discovery accelerator for this important research, visit the Crnic Institute Human Trisome Project at

About the Linda Crnic Institute for Down Syndrome

The Linda Crnic Institute for Down Syndrome is one of the only academic research centers fully devoted to improving the lives of people with Down syndrome through advanced biomedical research, spanning from basic science to translational and clinical investigations. Founded through the generous support and partnership of the Global Down Syndrome Foundation, theAnna and John J. Sie Foundation, and the University of Colorado, the Crnic Institute supports a thriving research program involving over 50 research teams across four campuses on the Colorado Front Range. To learn more, visit

About Global Down Syndrome Foundation

Established in 2009, Global Down Syndrome Foundation (Global) is a non-profit 501(c)(3) dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy. Global is part of a network of affiliates who work together to deliver on our mission, supporting hundreds of scientists and medical care professionals. Our affiliates include the Sie Center for Down Syndrome, the Crnic Institute for Down Syndrome, Rocky Mountain Alzheimer’s Disease Center and a new pilot Adult Clinic. For more information, visit and follow us on social media (Facebook, Twitter @GDSFoundation, Instagram @globaldownsyndrome).