The Griffin family
Neekeesha and Jay Griffin pose with their sons Franklin, 12, who has DMD, and Frasier, 10, who is healthy. Credit: Larry Luxner

NASHVILLE, Tennessee—Jay Griffin, whose 12-year-old son Franklin has Duchenne muscular dystrophy (DMD), knows all too well what it’s like to be a member of a minority group and in search of help with a rare disease.

Griffin and his wife, Neekeesha, live with Franklin and their younger son, 10-year-old Frasier, in Concord, North Carolina. Black and deeply religious, the family had never heard of Duchenne until Franklin’s diagnosis in 2016.

“I’m only a dad advocating for my son.  I am a dad, a husband, a mentor, and a man of God. I’m not on any payroll of any medical or research organization,” Griffin said in an emotional speech on diversity at the Muscular Dystrophy Association’s 2022 Clinical & Scientific Conference, which took place here March 14-16, 2022.

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Franklin was diagnosed with DMD at the age of 6, said Griffin, who owns an ice cream shop, Frozen Kups, in Harrisburg, North Carolina.

“Franklin was my firstborn,” he told Rare Disease Advisor. “We didn’t really know when kids were supposed to be doing certain things as they develop. We knew that at a certain age, you walk. He was supposed to be able to walk a certain way, and go up and down stairs—and we noticed that he wasn’t doing any of that.”

Yet Griffin said he “had to push and make people listen” to what he saw.

“For example, when his primary care doctors observed the things Franklin could and could not do, they didn’t take what I was observing seriously. They downplayed it and said he was just developing a little slower,” Griffin said. “We wasted 2 years of time when we could have done more blood work to determine what he had.”

He added: “All my life, it’s been that way. Black people go through that in general. We tend not to be treated with the same urgency as Caucasians.”

Eventually, doctors at Northeast Medical Center in Concord, North Carolina, determined that his son’s creatine kinase (CK) level—a biomarker for DMD—was nearly 45,000 U/L. That compares to a normal range of 75-230 U/L for boys aged 4-6 years.

“This is when our lives changed, when we confirmed that Franklin had Duchenne,” he said. “I really had to keep my emotions in check. I was not in a good place emotionally or physically.”

Neekeesha Griffin chats with her son, Franklin, 12, who has Duchenne muscular dystrophy. Credit: Larry Luxner

Griffin, 47, said his Christian faith helped him tremendously, “knowing that God would give me all the things that I needed to help me through tough moments.“

“Duchenne is Franklin’s Goliath. It’s our Goliath,“ he said. “We’re trying to slay Goliath with our faith, which is the rocks and slingshot.”

Yet the businessman acknowledged that African Americans sometimes lack trust in clinical trials for reasons dating back to the Tuskegee experiments of the 1940s, in which some 400 Black men were intentionally infected with syphilis but left untreated so that doctors could study the natural history of the disease. That study ended in 1972, only after 132 men had died of syphilis or related complications.

“Black males don’t like going to the doctor, period,” Griffin said. “Listen, I haven’t even gotten a colonoscopy yet. We don’t want to do some of the basic stuff that we’re supposed to do. That’s natural for us. I think in our community, trust has been a big issue for us. Economics is a big issue for us. Finances has always been a big issue for us. Those are the fundamental foundational things that we tussle with day in and day out because of the color of our skin.”

According to Gisel Lopez, associate director of global alliance management at Apellis Pharmaceuticals, 32,000 patients participated globally in clinical trials that led to US approval of 53 drugs in 2020. Of the 54% of those participants who were American, 75% were White, 11% were Hispanic, 8% were Black, and 6% were of another race. Slightly more than half (56%) were women and 30% were aged 65 years or more.

But within the neurology field, of the 5598 Americans who joined trials leading to the approval of 6 drugs that same year, 87% were White, 8% were Black, 3% were Asian, and 9% were Hispanic (the total exceeds 100% due to overlapping categories).

“This is abysmal,” said Lopez, a former clinical trial manager at Sarepta Therapeutics, adding that in some trials for neuromuscular therapies, “there are zero Black and zero Hispanic patients.”

The day before his 7th birthday, Franklin was accepted into a clinical trial for vamorolone, a synthetic, oral, flavored liquid medication being developed by Santhera Pharmaceuticals, which took over the program from ReveraGen BioPharma. The drug, which has not yet been approved, aims to offer the anti-inflammatory benefits of steroids without the damaging side effects.

Edward Smith, MD, of Duke University Hospital in Durham, North Carolina, is Franklin’s physician. Credit: Larry Luxner

If he had turned 7, he would have been declared ineligible for vamorolone, since the trial was open only to 4, 5, and 6-year-olds, said Franklin’s physician, Edward Smith, MD, of Duke University Hospital in Durham, North Carolina. But as it turned out, Franklin was the first boy dosed in the trial.

“Diversity has been a topic of discussion for a long time, not just in clinical research and trials, but in clinical care as well,” said Dr. Smith, who directs the pediatric neuromuscular clinical program at Duke. “In my experience, when I look at the African American population in North Carolina, and then look at the prevalence of Duchenne in our state, it’s clear that this community is underrepresented. Why that is, I don’t know. But it’s probably a number of factors, some of them trust-related.”

Dr. Smith is encouraged by Franklin’s progress on vamorolone, which is being developed as an alternative to the 2 most commonly prescribed corticosteroids: prednisone and deflazacort (Emflaza®). Franklin finished the trial and continues to receive the drug through Santhera’s expanded access program.

“Steroids are one of the only treatments we have for Duchenne, but they have chronic bad side effects,” Dr. Smith said. “Boys treated with steroids can walk a couple of years longer than boys who are not, but that comes at a cost: weight gain, brittle bones, osteoporosis, and behavior issues.”

For now, the only downside to vamorolone, Griffin said, is his son’s weight gain. At 5 feet, 1 inch, Franklin weighs 180 pounds and his body mass index is very high.

“All of the bone fragility, the stunted growth, the behavior issues, all those other side effects, we haven’t experienced any of that,” Griffin said. “Franklin says the taste of his medicine is nasty, but he’s dealing with that.”

Dr. Smith added: “Franklin is doing as would be expected in a steroid-treated boy with Duchenne. His weakness has progressed over time, but he’s showing some of the benefits. Obviously, we want more, but if we can get the efficacy of prednisone and possibly deflazacort with fewer side effects, that’s a win.”