Like most moms with an interest in Duchenne muscular dystrophy (DMD), Randy Clites has a son with a rare disease—but it’s not Duchenne.

Randy Clites
Randy Clites (Photo by Larry Luxner)

Rather, 20-year-old Colton has severe hemophilia. When he was 15 months old, Colton was also diagnosed with leukemia. Caring for her son, Clites gradually became immersed in the world of rare disease advocacy. That led to a stint in the Ohio legislature, where she represented the 75th House District for 2 years until she lost a re-election bid in November 2020.

Clites, 48, today is rare disease policy director at the Little Hercules Foundation, a nonprofit organization based in Columbus, Ohio. The charity’s stated mission is “to improve the lives of those diagnosed with, and families facing, Duchenne muscular dystrophy.”

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Clites said that before 2016, she focused mostly on bleeding disorders and childhood cancer because those were illnesses that directly affected her son. Among other things, she led parent advisory councils at both the Akron Children’s Hospital and Ohio’s Title V program for children with medical handicaps.

In 2008, Clites launched an annual Statehouse Day for the hemophilia community, and 4 years later, she represented Ohio as a family scholar for the Washington-based Association of Maternal & Child Health Programs.

“I did a lot of patient advocacy work, but rarely did that work intersect with other rare conditions. Then when I got the opportunity to campaign and become a state representative, I learned quickly how much all rare families needed each other,” she told Rare Disease Advisor. “I met and learned from rare community advocates, all becoming a catalyst for change in their own unique lanes. Some focused on research, others on access, many working on early diagnosis.”

As a lawmaker, Clites was particularly interested in state policy. Among other things, she passed legislation to establish a Rare Disease Advisory Council and worked on a bill to protect vulnerable patients under the Affordable Care Act.

A Top Priority: Universal Newborn Screening

Dozens of patient advocacy groups already work in the Duchenne arena, including Parent Project Muscular Dystrophy, CureDuchenne, Team Joseph, and the Akari Foundation. Little Hercules, founded by Kelly Maynard in 2013 after her youngest son, Jackson, was diagnosed with the disease, specifically works through 4 main pillars: advocacy, awareness, family assistance, and funding research.

“The Little Hercules Foundation is all about access to services that may or may not be qualified for coverage from your initial payer,” Clites said. “We have a team that works on access issues, making sure that appeals processes are taken care of. If the appeals process doesn’t work and there’s still a need, then we work with Team Joseph to cover the needed services.”

Today, Clites said, one of her top priorities at Little Hercules is getting all 50 states to screen newborn babies for DMD. That would first mean adding Duchenne to the federal Recommended Uniform Screening Panel (RUSP).

But on February 10, 2023, the federal advisory committee that decides which diseases appear on the RUSP voted not to move the nomination of DMD forward for the time being—a move that disappointed many in the Duchenne community.

At present, 36 “core conditions” appear on the RUSP list, including sickle cell disease, cystic fibrosis, maple syrup urine disease, phenylketonuria (PKU) and spinal muscular atrophy (SMA). Specialized labs detect the presence of these conditions using a few drops of blood from a newborn’s heel.

Babies are tested for SMA—which was added to the RUSP in 2018—in 48 of 50 states, covering 98% of all U.S. births, according to the nonprofit group CureSMA. Only Hawaii and Nevada don’t screen for the disease.

By contrast, not a single state requires newborn screening for Duchenne, although 3 ambitious pilot programs—being conducted in New York, Massachusetts, and North Carolina—are testing the feasibility of widespread screening for the condition.

“States can and should have their own ability to add conditions instead of making each condition wait for RUSP approval, then go through the process of each state adding the condition which can take as long as a decade,” Clites said.

Taking the Legislative Lead

Even if federal approval should one day come, the battle would be far from over, Clites explained.

“You have to work at the statewide level to get a condition onto the newborn screening panel, and make sure there’s funding available to add it. That takes a lot of perseverance,” she said.

“Our workgroup in Ohio started monitoring the work of the State Newborn Screening Panel Advisory Council,” Clites added. “We identified a past approved measure to allow a project to test SMA on the newborn screening panel and we researched how that project was implemented and how it was progressing. We found out during the pandemic there was a short timeframe that SMA was not on Ohio’s testing panel, because it was only still in the project phase and not mandated by law. We used that information to gain support of the condition to be added in legislation officially.”

In addition, Clites and her team added a timeline of not later than 6 months after the date of a condition’s inclusion on the federal RUSP whether or not to recommend to the director that the condition be added in Ohio.

“We also included another timeframe, requiring the department to implement screening within 1 year after the director approves the addition of a condition,” she said. “It was also important to our workgroup that disorders have the option to be heard by the state’s Newborn Screening Advisory Council before RUSP approval, so in our language it does allow a pathway for early consideration of a condition for recommendation.”

Recently, the advisory council held a hearing to discuss adding DMD for inclusion at the same time it’s working through the RUSP process. 

“Our argument in the patient advocacy space is, sometimes the diagnosis journey takes quite a long time. If you can catch it right away, there are things that can start as early as 9 months old,” she said, adding that she recently met with Jerry Mendell, MD, professor of neurology and pediatrics at Nationwide Children’s Hospital in Columbus, to discuss the potential for gene therapy in Duchenne—a subject Dr. Mendell has pursued for more than half a century.

“There’s a lot going on right now coming with gene and cell therapy,” Clites said. “It’s really fascinating to see how much work is being done, and how quickly I think we are approaching access to that treatment.”