For the first time, a person with Duchenne muscular dystrophy (DMD) has been given an experimental gene-editing therapy, called PBGENE-DMD, that’s designed to treat the neurodegenerative disease by altering the patient’s own genetic code.
Precision Biosciences, the U.S. company developing PBGENE-DMD, announced that dosing had begun in the Phase 1/2 FUNCTION-DMD clinical trial (NCT07429240). The small study will evaluate the treatment’s safety, tolerability, and primary effectiveness.
“Dosing the first patient in the FUNCTION-DMD study earlier this month was a significant milestone for Precision BioSciences and for the Duchenne community,” Sam Collins, MD, Precision’s senior vice president of DMD clinical development, said in a company press release, which noted that the patient was dosed in Arkansas.
“We are grateful to the patient, their family, and the clinical team for their commitment to advancing this important work, and we look forward to reporting initial safety data by year-end 2026,” Collins added.
DMD is caused by mutations in the gene that encodes dystrophin, a protein that normally helps preserve muscle health. Roughly 60% of DMD-causing mutations occur between exons 45 and 55 of the gene; an exon is a section of a gene that contains instructions to make a protein.
PBGENE-DMD basically aims to snip out this section of the gene, allowing cells to produce a slightly shortened but functional version of the dystrophin protein. This essentially would correct the underlying cause of Duchenne, according to the company.
PBGENE-DMD uses novel gene-editing approach
Gene therapy approaches for DMD, such as the approved therapy Elevidys (delandistrogene moxeparvovec-rokl), work by delivering a gene encoding a shortened version of the dystrophin protein to muscle cells. Like Elevidys and other gene therapies in development, PBGENE-DMD delivers its genetic cargo using a viral vector, which is basically a virus that’s been engineered to deliver therapeutic genes instead of causing infection.
But this gene-editing therapy works differently, according to the developer.
“PBGENE-DMD represents a paradigm shift from currently available approaches. Rather than delivering a highly truncated form of synthetic dystrophin as many therapies in development do today, PBGENE-DMD is designed to permanently edit the patient’s own dystrophin gene to endogenously produce a near full-length, functional dystrophin protein,” Collins said.
Seeing PBGENE-DMD move from research into the clinic turns the possibility of gene editing for Duchenne into reality — a novel approach that could address some of the limitations of currently available therapies.
The FUNCTION-DMD trial is expected to enroll approximately 18 boys with DMD, ages 2 to 7, who have mutations between exons 45 and 55. All participants will be treated with PBGENE-DMD via a one-time infusion into the bloodstream. The trial’s main goal is to monitor safety outcomes.
The Phase 1/2 study is now recruiting at two sites in the U.S. The first participant was dosed at Arkansas Children’s Hospital. Aravindhan Veerapandiyan, MD, director of the hospital’s comprehensive neuromuscular program, said the milestone “represents a meaningful step forward for individuals and families living with this condition.”
“We’re proud that our center was the first to dose a patient in the FUNCTION-DMD study,” Veerapandiyan said. “PBGENE-DMD is designed to restore near full-length, functional dystrophin, and we look forward to evaluating its safety and potential to provide durable functional benefits. This innovation could open the door to an entirely new approach for treating Duchenne.”
Pat Furlong, president of the DMD-focused advocacy group Parent Project Muscular Dystrophy (PPMD), expressed optimism as a gene-editing treatment for DMD moves into clinical testing for the first time.
“Seeing PBGENE-DMD move from research into the clinic turns the possibility of gene editing for Duchenne into reality — a novel approach that could address some of the limitations of currently available therapies,” Furlong said. “Families have been waiting for options like this, and PPMD is encouraged to see this program advance. We look forward to learning more as the study progresses and continuing collaboration on behalf of all our Duchenne families.”
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