When Mikey was diagnosed with Duchenne muscular dystrophy five years ago, Michael began frantically searching the web. How could he help his child? Where did they need to go? He found the answers to some of these tough questions at CHoR.
Our neuromuscular team is shaping the future of care for kids like Mikey through clinical trials, a type of research that studies how helpful treatments are before they become widely available.
DMD is a rare disease caused by a genetic mutation that prevents the body from producing dystrophin, a protein that muscles require to remain intact and work properly. Without dystrophin, muscle cells deteriorate and become weak. Over time DMD can impact walking, breathing and even heart functioning. The first sign of DMD is often low muscle tone, which is what signaled the Lo Sapios that there could be a problem.
In his research, Michael found a clinical trial of Viltepso on clinicaltrials.gov that listed CHoR as a possible site. He got in touch with Kathy O’Hara, clinical research nurse, learned more about the process and got Mikey on the list early.
Mr. Lo Sapio was knowledgeable and eager to find the best care for his son. Because of this dedication, we were able to work out all the details and get Mikey enrolled in the clinical trial – to the benefit of everyone involved.
Kathy
When the trial began, the Lo Sapios were ready. On infusion day each week, Michael would wake up at 3:15 a.m. to feed the chickens, lambs and sheep on the family farm in Delaware before waking Mikey at 3:30 and beginning their voyage to Richmond. Mikey would get his Viltepso infusion, a half-day process, then they would get back in the car for their return trip. They usually arrived back home about 6 p.m. They made this trip 170 times over the course of the trial, every few months making overnight visits for testing or muscle biopsies.
The trial drug Viltepso is specifically targeted to patients with the DMD gene mutation that is responsive to exon 53 skipping. Mikey is among the 8% of DMD patients who fall in this category. Exons are the sections of DNA that code for protein, and the dystrophin gene contains 79 exons joined together like puzzle pieces. Viltepso is an exon-skipping drug that is designed to skip over a section of genetic code to avoid a gene mutation and promote production of the dystrophin protein. Although Viltepso won’t cure DMD, it has shown to slow the progression – and just this month, received FDA approval!
Michael has already seen a difference in his son. He’s gained strength and stamina, and can go up the stairs, run, JUMP and keep up with his friends much better.
DMD occurs in one in every 3,500 to 5,000 males born worldwide and in rare cases can affect girls.
“The boys in the trial made a protein similar to those known to have milder disease. Up until a few years ago, there were no approved treatments for DMD, so this gene-modifying therapy is a really significant step,” said Dr. Amy Harper, Mikey’s research neurologist. “Not only is this outstanding news for Mikey, but as a clinical trial participant he has paved the way to helping so many other young people with DMD.”
One of these others is his younger brother, Reid. Because Mikey was diagnosed with DMD at 2.5 years old, it was recommended that Reid get tested at a young age as well. Sure enough, Reid was diagnosed with the same disease. Unfortunately, at the time the clinical trial began enrolling, Reid was only 2 – too young for the parameters of the trial.
“It was really tough watching Reid ask, and sometimes beg, to get the drug. Mikey would often ask for his brother to get the ‘special medicine’ so it could help him too. I cried many times over this,” said Michael.
Two months ago, NS Pharma did allow Reid to get Viltepso through expanded access. Now, with FDA approval, he has total access to the drug.
“As a parent of two boys with DMD, it’s on my mind constantly. This drug has given me the ability to forget about DMD from time to time and just enjoy them growing up,” added Michael.
Growing up for the Lo Sapio boys means all-day activity and outside time on the farm. Now ages 7.5 and 6, they like exploring the meadows, trails and pond on their property, along with gardening and helping Dad take care of the animals. Ten lambs were born on the farm already this year and they just got done planting their fall crops – spinach, kale, lettuce, carrots, beets, radishes, pumpkins, sugar snap peas and squash. Most of all, they love their dog, Roxy, who herds the sheep, helps on the farm and follows the boys everywhere.
The FDA’s approval of Viltepso comes after years of intensive research. This is a monumental and life-changing step for those living with DMD as researchers continue to work toward a cure for this disease and other neuromuscular conditions.
“My hope for my boys is the same as every parent – a long, happy life. This drug will hopefully allow them to produce enough dystrophin to hold their muscles together, including heart and lungs, for a very long time,” said Michael.
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