Urgent Waiting for Treatments: The Race Against Time to Fight FSHD, a Genetic Muscle Disease

Mark J. Christman continues to wait, but time is of the essence.

Ongoing research and clinical trials are underway, but the U.S. Food and Drug Administration has not yet approved any treatments to halt progression or increase muscle mass in people with facioscapulohumeral muscular dystrophy (FSHD), a genetic disorder that weakens skeletal muscle. to increase.

“The hard part is the waiting,” said Christman, who was diagnosed in 1977. “It’s harder when you’re getting weaker because you have less time to wait.”

FSHD is the fourth most common form of muscular dystrophy, said Dr. Nicholas Johnson, professor and associate chair of research and neurology at Virginia Commonwealth University.

Several companies are working on potential therapies, and knowing what causes the disease will help develop a treatment, Johnson said. Avidity Biosciences is working on a promising therapy, he added.

“Drug development doesn’t always work the way you want it to,” Johnson said. “But the good news is that with several trials underway, we are optimistic about finding one that works.”

Johnson said a resource like the FSHD Society, which provides education and outreach and funds scientific and medical research, is a great way to connect with others who understand.

“Be patient,” Johnson said. “That takes time. It’s a process, but some positive reactions give us a boost.”

One way to help in the meantime is to fundraise – which is important because drug development is quite expensive, Johnson said.

Christman continues to do his part to raise money and advocate for awareness of the disease. A focus is an annual fundraiser – the Western Pennsylvania Drum & Roll to Cure FSHD – to raise money for resources, research and one day a cure. The event will take place Nov. 3 at the National Aviary on Pittsburgh’s north side.

The event will feature Jeannette native musician Rob Stemple, who lives in Shaler. He was diagnosed with FSHD at age 14 and lost his sight in a car accident involving a drunk driver in 1989. He said his wife, Wendy, and their three children, Jill, Nicole and Ryan, as well as church members, are the reason he is able to get to his appearances at nursing homes and assisted living facilities.

Stemple will play background music featuring well-known tunes from artists such as Billy Joel and Elton John.

“I’m going to keep making music as long as I can,” Stemple said. “Music has always been a part of my life and it is an honor to be able to play music for the Drum & Roll event. It’s so nice to be with people who understand what you’re going through. Every day that I am here is a blessing. We need to find a cure for FSHD.”

Stemple and Christman are two of an estimated 870,000 people worldwide who suffer from FSHD. The condition is inherited and can affect many family members across generations. There is no effective treatment or cure.

According to the FSHD Society, about 20% of people with the disorder, like Christman, require a wheelchair.

Christman, a former real estate and business attorney and trustee of Trib Total Media who grew up in Indiana Township, has become a dedicated advocate for people with FSHD. After not meeting anyone with the disease until 2014, he decided to start a local group to support others with the disease. Christman traveled to Washington, DC this year to speak to members of Congress and bring awareness to patients with FSHD. He has helped raise nearly $150,000.

The goal for this year’s Western Pennsylvania Drum & Roll to Cure FSHD is $80,000. Money is needed because an ongoing study on a therapy had to be stopped due to contradictory results. A new project has started, but it will take more time to see if it is effective, which means a longer wait.

That’s why the setback from an ongoing trial was emotional for Christman of Whitehall and his wife, Renee, and their children, Zachary, Rachel and Leah, who are expecting their first grandchild in February.

“Despite the setback, there is still a lot of forward momentum,” said Christman, who won the Whitehall Man of the Year award this summer for his commitment to FSHD.

“It’s about staying positive,” said Beth Johnston, chief community engagement officer for the FSHD Society, whose husband, Jeff, has FSHD.

Johnston said that all of the research to date, even if it has not led to viable therapies to slow, stop or prevent FSHD, is helping pave the way for future therapies. Several trials are underway, one of which has shown very promising preliminary results.

The FSHD Society has funded more than $12 million in research initiatives, including genetic mechanism identification, animal model development, clinical trial endpoint validation, and early drug discovery.

“There have been some hiccups that may have delayed treatments, and I know that can be devastating and takes a little bit of wind out of the sails, but we have to remain hopeful,” Johnston said.

Christman remains hopeful. One of the hardest moments of waiting, he said, was when his friend Walter Mark Shoemaker, who had FSHD, died of complications from pneumonia in May. Shoemaker’s family members told Christman how much the support he gave Shoemaker meant to them.

“When you lose a friend with FSHD, it’s hard not to think about yourself,” Christman said. “My lungs are still pretty good, but I’m worried about getting pneumonia. Losing Mark makes it even more real and the waiting even harder.”