Young Boy Becomes First DMD Patient to Receive Investigational Systemic Microdystrophin Gene Therapy

The first Duchenne muscular dystrophy (DMD) patient has received systemic microdystrophin gene therapy as part of a Phase 1/2 clinical trial at Nationwide Children’s Hospital in Columbus, Ohio.

The trial (NCT03375164), currently recruiting participants, will test the safety and efficacy of a single dose of intravenous microdystrophin gene therapy into two groups of patients — one group will recruit younger DMD patients, aged from 3 months up to 3 years of age, and the second group will recruit patients 4 to 7 years of age.

The therapy is delivered into the blood (systemic administration) so that it can reach all the muscles in the body. Participants will undergo muscle biopsy at baseline and three months after the gene therapy infusion. This will show whether the gene therapy was successful at replacing the missing dystrophin protein that underlies the disease.

Potential side effects of the gene therapy will be closely monitored with regular blood and urine tests and physical examinations up to a final assessment at 3 years after the therapy delivery.

The trial was funded in part by a $2.2 million grant by Parent Project Muscular Dystrophy (PPMD), one of the largest nonprofit organizations in the U.S. working to find a cure for Duchenne muscular dystrophy (DMD). Sarepta Therapeutics, a biopharmaceutical company developing precision genetic therapies for rare neuromuscular diseases, including DMD, also contributed funding and other support to the project.

“We will learn a lot from this study, including answers to questions around the production of sufficient virus, understanding and preventing an immune response, and how to deliver gene therapy systemically,” Pat Furlong, PPMD’s founding president and chief executive officer, said in a press release. “But for now, we are celebrating the first dosing of a Duchenne patient with microdystrophin gene therapy and we are celebrating the bravery of the little boy and his family participating in this breakthrough trial.”

“Bringing this to clinical trial has been an extended process working with a team of researchers at Nationwide Children’s Hospital,” said the trial investigators, Dr. Jerry Mendell and Dr. Louise Rodino-Klapac, both of Nationwide Children’s. “The laboratory studies were guided by a careful hand in validating the potential for efficacy for adeno-associated virus delivery in clinical trial. The vector manufacturing facility was responsible for bringing a safe virus carrying the microdystrophin gene to the clinic.

“The regulatory team conveyed all of the proof of principle studies and careful safety data to the RAC, IRB, and FDA, allowing this clinical trial to move forward. The first injection of the virus carrying a modified DMD gene to clinical trial, made over a decade of research a gratifying experience,” they added.

Washington University School of Medicine in St. Louis is collaborating on the clinical trial with Nationwide Children’s.

Additional contributors to the trial’s funds include Team Joseph, Team Saij, The Fund for Pete’s Sake, Rashad’s family, and the Nicholoff family.

Preliminary results from this study are expected by mid-2018, according to Douglas Ingram, Sarepta’s president and chief executive officer.