Rare Disease Report

Gene Therapy Trial Doses First DMD Patient

JANUARY 25, 2018
Mathew Shanley
Last week, Parent Project Muscular Dystrophy (PPMD) announced that the first patient with Duchenne muscular dystrophy (DMD) has been dosed with microdystrophin gene therapy.

The most recent clinical trial of a gene therapy is being conducted by Dr Jerry Mendell, Dr Louise Rodino-Klapac, and their team at Nationwide Children's Hospital in Columbus, Ohio, and was funded in part by a $2.2 million grant from PPMD as part of the organization’s Gene Therapy Initiative.

DMD is a progressive degenerative muscle disease resulting from low levels of the dystrophin protein because of mutations along the Dystrophin gene. Dystrophin acts as a shock absorber in muscle and without that protein’s support, muscles gradually die. Symptoms typically begin to appear in patients around the age of 4 or 5 years and by their teenage years, most are non-ambulatory. Few live past their 20s.

Mutations along the dystrophin gene can cause low levels of the dystrophin protein and lead to DMD. The protein is responsible for acting like a shock absorber in muscle, and without it, muscles progressively degenerate.

In a news release, Dr Mendell and Dr Rodino-Klapac said: "Bringing this to clinical trial has been an extended process working with a team of researchers at Nationwide Children's Hospital. 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 micro-dystrophin 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."

In addition to the grant from PPMD and small financial contributions from other advocacy organizations – including Team Joseph, Team Saij, The Fund for Pete’s Sake, Rashad’s family and the Nicholoff family – Sarepta Therapeutics, Inc., provided monetary and other support to the project through a research and option agreement with the hospital.

"After years of dedicated and expert work by Nationwide Children's Hospital and Drs. Mendell and Rodino-Klapac, and with the support of PPMD, we stand at a potentially transformational moment in our quest to profoundly alter the course of DMD and create a brighter future for these children," said Douglas Ingram, Sarepta's president and chief executive officer. "Sarepta is the world leader in precision genetic medicine to treat DMD, spanning RNA-targeted therapies, gene therapy, and gene editing. In service of our mission to profoundly improve the lives of those with DMD, we look forward to the preliminary results from this study by mid-2018 and, results permitting, stand ready to aggressively invest in bringing this therapy to reality and to the DMD community."

Per PPMD, the dosed patient continues to thrive, and more data will be presented at the organization’s Annual Conference in Arizona this summer.

"This is a monumental day in the Duchenne community, a day that 24 years ago when we started Parent Project Muscular Dystrophy, we didn't think possible,” said to PPMD founding President and CEO, Pat Furlong. “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. 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."

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