Home Autoimmune Disease CRNIC Investigators Publish First Cases of Immunotherapy for Alopecia Areata in People...

CRNIC Investigators Publish First Cases of Immunotherapy for Alopecia Areata in People with Down Syndrome

Alopecia Areata

Researchers and doctors at the following research institutions have published a 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 (Tofacitinib) –part of the class of drugs known as JAK inhibitors. The research team includes:

  • Linda Cranic Institute of Down Syndrome (Cranic Institute)
  • University of Colorado Department of Dermatology
  • Palo Alto Medical Foundation

The results of the publication hold much 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 on the Cranic 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 interferon response.

Alopecia areata is an autoimmune disorder in which the immune system mistakenly attacks the hair follicles, causing hair loss.   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.

Dr. Espinosa and several expert scientists at the Cranic 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 Cranic 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 Cranic 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 Cranic Institute Human Trisome Project™ at www.trisome.org.


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