Hospital and Researchers Awarded $2.2M for Duchenne Gene Therapy Investigation

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by Charles Moore |

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The nonprofit Duchenne muscular dystrophy (DMD) research and advocacy organization Parent Project Muscular Dystrophy (PPMD) awarded a $2.2 million grant to Jerry Mendell, MD, PhD; co-principal investigator Louise Rodino-Klapac, PhD; and Nationwide Children’s Hospital in Columbus, Ohio, where they both work.

The funding will support Mendell, Rodino-Klapac, and their research team’s investigation into gene therapy as a potential Duchenne MD treatment.

Mendell is a professor of pediatrics and neurology and director of the center for gene therapy at Nationwide Children’s Hospital’s Research Institute, and Rodino-Klapac heads the Rodino-Klapac Gene Therapy Lab for Muscular Dystrophies, which is focused on developing gene therapy-based vectors for the treatment of various neuromuscular disorders. She is also an assistant professor at the The Ohio State University School of Medicine.

The $2.2 million grant is the largest amount single award PPMD has granted in the organization’s nearly 23 years of supporting early-stage DMD research projects at critical moments in the development of potentially innovative therapies. Gene therapy has long been proposed and researched as a potential mode of treating Duchenne, but it’s only recently that the science of genetics and advances in technology have made it a viable DMD treatment option.

“Gene therapy has seemed like the future for quite some time, almost like something out of science fiction,” PPMD founding president and CEO Pat Furlong said in a press release. “Today, the future is here. Dr. Mendell and Dr. Rodino-Klapac have unique experience in this field, bringing with them a breadth of knowledge and first-hand experience with people living with Duchenne.

“They, and the team at Nationwide Children’s Hospital, have spent years exploring the potential of gene therapy in Duchenne, and PPMD is thrilled to provide support for the next stage in this exploration,” she said.

“We would like to thank PPMD for funding this exciting trial for Duchenne muscular dystrophy,” Mendell and Rodino-Klapac wrote in a statement. “Based on our experience, we believe we have outlined a safe approach for delivery of a gene with the potential to make a clinical difference to change the lives of people with this devastating disease. We have laid the foundation for doing this trial over the past decade and we are eager to get started.”

They added that their program is enhanced through a collaboration with Anne Connolly at Washington University in St. Louis, Missouri.

Building on Mendell’s previous participation in spinal muscular atrophy (SMA), micro-dystrophin, and SGCA (sarcoglycan alpha) gene therapy trials, he and Rodino-Klapac will launch a Phase 1/2a systemic gene therapy trial investigating microdystrophin delivery in Duchenne MD patients ages 3 months and up, with safety as the primary outcome.

All patients’ functional outcomes will be measured using the Bayley-III Gross Motor Scale, a test battery that examines various facets of development in young children within an age range of 1 to 42 months

The PPMD grant will be used to support the trial’s manufacturing and clinical costs, and will be milestone driven, based on regulatory interactions, vector manufacturing, and patient dosing and follow-up. Mendell and Rodino-Klapac have had already had successful regulatory interactions in their preparations to bring their study to clinical trial. The trial is expected to start in mid-to-late 2017.

Later this month, PPMD is launching a gene transfer investigation that will encompass work Mendell and Rodino-Klapac have in progress, plus a deeper exploration of CRISPR/Cas9 technology (a naturally occurring bacterial defense system that has been adapted into a gene-editing tool) as a potential DMD treatment modality. PPMD has been raising funds to advance CRISPR/Cas9 research and aims to discover just what CRISPR/Cas9 can do.

“PPMD believes in collaborating across stakeholder groups – patients, caregivers, researchers, clinicians, companies, and regulators – working together to move exciting new research strategies forward,” Furlong said. “On the heels of an extremely successful holiday campaign focused on exploring CRISPR/Cas9, we believe this is the moment to commit to Nationwide Children’s gene therapy work as part of our larger Gene Transfer Initiative, which we look forward to rolling out in the coming weeks.”

The $2.2 million grant to Mendell, Rodino-Klapac, and Nationwide Children’s Hospital was made partly possible with the support of several other Duchenne MD foundations: Team Joseph, Team Saij, The Fund for Pete’s Sake, Rashad’s family, and the Nicholoff family.

Duchenne muscular dystrophy, the most common fatal genetic disorder diagnosed in childhood, affects approximately one in every 5,000 boys born in the United States. Duchenne patients are nearly always boys. For more information about PPMD’s research investments, visit