For three and a half years, Michael Lo Sapio and his oldest son, Mikey, drove nearly four hours each way once a week -- nearly 50,000 miles -- for life-changing clinical trial.

When Mikey was diagnosed with Duchenne muscular dystrophy (DMD) five years ago, his father began frantically searching the web. How could he help Mikey? Where did they need to go? He found the answers to some of these tough questions at Children’s Hospital of Richmond at VCU (CHoR).

The CHoR 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 need to remain intact and work properly. Without dystrophin, muscle cells weaken and deteriorate. Over time, DMD can impact walking, breathing and even heart function. The first sign of DMD is often low muscle tone, which is what signaled to the Lo Sapios that Mikey could have a problem.

No drive too long for revolutionary care

In his research, Lo Sapio 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,” O’Hara said. 

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.

Drug targets kids like Mikey with specific gene mutation

The trial drug Viltepso is designed for people who carry a specific DMD gene mutation. Mikey is among the 8% of DMD patients who carry this mutation. Although Viltepso won’t cure DMD, it has been shown to slow progression. It won FDA approval just recently.

Lo Sapio has already seen a difference in his son. Mikey has 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 affects girls.

“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.”

Trial participation will help Mikey’s little brother

One of these others is Mikey’s younger brother, Reid. Because Mikey was diagnosed with DMD at 2 ½ years old, doctors recommended Reid get tested at a young age, too. 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 trial.

“It was really tough watching Reid ask, and sometimes beg, to get the drug,” Lo Sapio said. “Mikey would often ask for his brother to get the ‘special medicine’ so it could help him too. I cried many times over this.”

Two months ago, Reid was granted “expanded” access to Viltepso. Now, with FDA approval August 12, he has total access to the drug.

“As a parent of two boys with DMD, it’s on my mind constantly,” Lo Sapio said. “This drug has given me the ability to forget about DMD from time to time and just enjoy them growing up.”

Growing up for the Lo Sapio boys means all-day activity and outside time on the farm. Now ages 7 1/2 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 this year, and the family just finished planting their fall crops. These include spinach, kale, lettuce, carrots, pumpkins and squash. Most of all, the boys love their dog, Roxy, who herds the sheep and follows the boys everywhere.

Ultimate goal: A long, happy life

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,” Michael said. “This drug will hopefully allow them to produce enough dystrophin to hold their muscles together, including heart and lungs, for a very long time.”

Read more patient stories to see how CHoR provides transformative care for children.