DENVER, Colo. (Ivanhoe Newswire)— Each year 6,000 babies are born with Down syndrome in the United States. These babies have an extra chromosome that can cause both mental and physical challenges, as well as autoimmune disorders that cause painful skin lesions, patchy bald spots and loss of skin color. Now, researchers are going beyond skin deep to help relieve some of these painful conditions.
Sam Levin’s energy is infectious. From breakdancing, to podcasting, to wrestling, Sam is unstoppable.
“I am a top wrestler, and everyone calls me the beast because I am the beast,” Sam Levin, Global Down Syndrome Foundation ambassador exclaimed to Ivanhoe.
But four years ago, at just 13 years old, Sam was losing … his hair.
“Kids were teasing him about it,” shared Sam’s father Brian Levin.
They tried medications and injections. He has a condition called alopecia areata where his immune system attacked his hair follicles. Doctor Joaquin Espinosa’s team at the Crnic institute for Down Syndrome has found which part of the immune system is hyperactive and responsible for several painful skin conditions associated with Down syndrome.
“It’s called the interferon response; it is the aspect of the immune system that we use to fight off viruses, but we use it only when there is a virus. Whereas people with Down syndrome activate the interferon response constantly,” explained Joaquin Espinosa, PhD, Executive Director at Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus.
Causing the immune system to attack healthy cells. Doctor Espinoza is leading a nationwide clinical trial on tofacitinib, a JAK inhibitor already FDA approved to treat rheumatoid and psoriatic arthritis. Participants take the pill daily for four months. It didn’t take long for Sam and his dad to become believers.
“And it is a life changer,” Sam revealed.
“It’s something that was just miraculous to see how quickly, he has a full head of hair again, not that he needed more confidence, but now he certainly has it,” Brian shared.
And you can bet Sam will make the most out of it.
The drug is an immune suppressant, so doctors monitor increased risk for infections closely. The nationwide clinical trial is funded by the NIH. They had to pause it for three months due to COVID-19, but it is starting again and is open to Down syndrome patients nationwide.
Contributors to this news report include: Cyndy McGrath, Executive Producer; Marsha Lewis, Field Producer; Rusty Reed, Videographer; Roque Correa, Editor.
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MEDICAL BREAKTHROUGHS
RESEARCH SUMMARY
TOPIC: LIFE CHANGER FOR DOWN SYNDROME: GOING BEYOND SKIN DEEP
REPORT: MB #4771
BACKGROUND: The appearance of skin disorders like alopecia areata in Down syndrome patients isn’t entirely understood within the medical community. Several studies have showed that alopecia areata is associated with Down syndrome indicating that the genetic cause must be on chromosome 21. It has also been linked to the interferon response, which the body releases when a virus is present, however in Down syndrome patients, the interferon response is happening constantly. In a study conducted by Hadassah-Hebrew University Medical Center, the mean age of onset was 6.8, which is lower than the average age in the general population which is consistent with the younger age of onset in Down syndrome patients. However, it still has yet to be determined inf the correlation between these two phenomena is associative or coincidental.
(Sources: Joaquin Espinosa, PhD, Executive Director, Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999661/)
Alopecia Areata: Alopecia Areata, also called AA, is a polygenic disease, meaning that unlike single-gene disease, both parents must contribute specific genes in order for a child to develop it. Therefore, most parents with AA, will not pass it down to their kids. Even with identical twins with identical genes, there is only a 55 percent chance that both with develop AA. This is why scientists are concerned more about environmental factors that might cause AA to develop rather than familial genetics. In all forms and types of AA, the body’s immune system attacks healthy hair follicles causing them to become much smaller, slow down hair production, and ultimately halt hair production. Depending on type and severity, AA may appear in variable areas, be unpredictable and cyclical or chronic for many years. Though some patients may also experience varying levels of regrowth. The three main types of AA are, Alopecia areata patchy, which is the most common form resulting in coin-sized patches of hair loss, Alopecia totalis, which is total hair loss of the entire scalp, and Alopecia universalis, which is complete hair loss of the entire scalp, body, and face.
(Source: https://www.naaf.org/alopecia-areata)
NEW OPTIONS: A newly FDA approved drug, tofacitinib, is currently being evaluated as an effective treatment for active skin conditions such as alopecia areata, vitiligo, hidradenitis suppurativa, psoriasis, or topic dermatitis. Dr. Joaquin Espinosa, PhD says, “So this class of drugs, JAK inhibitors, are showing very promising results for alopecia areata when the auto immune system attacks the hair follicle. So what we’re seeing is that individuals that take this drug within a few weeks that their hair regrows and for as long as they are on the drug the hair remains. Then if they stop taking the drug a few months later the alopecia may come back, in which case they can resume the treatment.
(Source: Joaquin Espinosa, PhD, Executive Director, Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus)
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
ANCA ELENA CALL
GLOBAL DOWN SYNDROME FOUNDATION
(720) 548-5620
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com
