Brenda Wong, MD, director of the Duchenne Muscular Dystrophy Program at University of Massachusetts in Worcester, with Debra Miller, cofounder of CureDuchenne. Credit: Larry Luxner

In October 2019, the last time CureDuchenne held its annual Futures conference, 650 people gathered in Anaheim, California, for the 3-day event. This year, despite the ongoing COVID-19 pandemic, 300 to 350 attendees were expected at the 2021 Futures set for October 8-10 in Dallas, Texas—but an explosion of infections fueled by the Delta variant has forced the meet to go virtual.

“Obviously, we’re really disappointed that we’re not going to have this in person, but with such an immunocompromised group, we couldn’t take any chances,” said Debra Miller, cofounder and president of the charity, which aims to find a cure for Duchenne muscular dystrophy (DMD). “We’ve been planning this as a hybrid event all along, so every panel will have audience participation. We’re hoping it’ll be as engaging as possible.”

The online agenda features a 7-member panel on exon skipping as well as sessions on the family’s role in research, quality of life, cognition in Duchenne, and defining happiness. Also on the schedule are “sponsor spotlights” focusing on DMD research by PTC Therapeutics, FibroGen, Astellas, Edgewise, and Panthera Pharmaceuticals. 

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Major speakers include Brenda Wong, MD, director of the University of Massachusetts Muscular Dystrophy Program in Worcester; Michael Kelly, PhD, chief scientific advisor at CureDuchenne; Emil Kakkis, PhD, president and CEO of Ultragenyx; and Tiffany Cook, MS, senior director of CureDuchenne Cares.

“Over the past couple of years, we’ve funded many companies working on non-viral gene delivery, either not using [adeno-associated virus (AAV)] or using AAV with different protocols to overcome the immune reaction,” Miller said. “That’s a hot area right now. We’re already well into the next generation of gene therapy.”

To that end, there will also be a 9-member panel on gene therapy and gene editing moderated by Eric Olson, PhD, chief scientific advisor at Vertex Pharmaceuticals and founding chair of the molecular biology department at the University of Texas-Southwestern Medical Center in Dallas. Among the panelists: Genine Winslow, CEO of Chameleon Biosciences; Carl Morris, chief scientific officer at Solid Biosciences; Deanna Tucker, PharmD, senior medical science liaison at Sarepta Therapeutics; and Beth Belluscio, MD, PhD, global clinical lead for rare neurological disorders at Pfizer.

Eric Olson, PhD, chief scientific advisor at Vertex Pharmaceuticals and director of the University of Texas- Southwestern’s Hamon Center for Regenerative Science and Medicine. Credit: University of Texas-Southwestern

In an interview with Rare Disease Advisor, Dr. Olson described Duchenne as “the Mount Everest of muscle disease,” mainly because of the massive size of the dystrophin gene, which is mutated in DMD.

“This makes it impossible to deliver that gene by traditional gene therapy approaches,” he said. “In addition, to correct Duchenne muscular dystrophy requires lifelong correction of the disease in all the muscles and the heart. The muscles of the body comprise roughly 40% to 50% of body mass, so you can imagine the challenges of correcting a gene in all of those tissues.”

Dr. Olson added: “What we’re trying to do is to deploy CRISPR gene editing technology to eliminate mutations that prevent the production of dystrophin and then to restore that protein as a strategy for treating not the symptoms of the disease, but the underlying molecular basis of the disease.”

Dr. Olson said his team is attempting to use gene editing to correct the mutation in the DNA within the patient’s genome, and that up to 80% of boys with Duchenne will ultimately benefit from this approach.

“It’s our hope and our belief that, once we correct the mutation within the chromosome of the patient, that should be able to sustain the long‑term expression of the corrected version of dystrophin,” he said.

Describing recent Duchenne clinical trials as “two steps forward, one step back,” Miller said both Pfizer and Sarepta will soon begin dosing DMD patients at US sites for their phase 3 trials of investigative gene therapies.

“That’s exciting, but it’s been a little sobering in that we don’t know how durable these treatments are,” she said. “What I’m excited about is some of the next-generation exon skipping therapies because they don’t depend on AAV delivery. So if you happen to have the right mutation, you won’t have an immune reaction.”

Miller, whose son, Hawken, has DMD, founded CureDuchenne along with her husband, Paul, in 2002. Since then, the organization, headquartered in Newport Beach, California, has leveraged more than $2.3 billion in investment from venture capital, biotech, and pharmaceutical companies to fund research—with 9 CureDuchenne-funded research projects advancing into human clinical trials.

Despite its heavy emphasis on science, the upcoming conference will also offer entertainment and inspiration. A special performance is planned by musician and singer Isabella Kay, whose younger brother, Gavin, has DMD; there will also be a talk by Friedrich’s ataxia patient Sean Baumstark, co-founder of Two Disabled Dudes.

Miller said the pandemic’s overall impact on CureDuchenne has been mixed.

“It’s been difficult to get out and be social, but now the rest of the world has gotten to experience what a lot of our Duchenne guys are going through,” she said. “On the positive side, many of them connected online with each other and with the outside world. We’ve actually funded more research during COVID than we’ve ever funded before.”