HACKENSACK, N.J., April 18, 2019 /PRNewswire/ -- Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), announced that Drs. Paul Martin and Kevin Flanigan from the Research Institute at Nationwide Children's Hospital have completed work under a $100,000 grant exploring GALGT2 gene therapy technology as a potential treatment for Duchenne. Part of PPMD's ongoing Gene Therapy Initiative, funding for this grant was a result of community support. The grant was awarded to the Research Institute in early 2018. Since the launch of the Initiative, PPMD has funded over $3 million in a variety of gene therapy and related approaches to several institutions, including micro-dystrophin gene transfer, CRISPR/Cas9, Dup2, and GALGT2, as well as research into the effects of gene therapy on the heart and potential immune responses gene therapy may provoke.
Duchenne is the most common fatal genetic disorder diagnosed in childhood, affecting approximately one in 5,000 live male births. Duchenne is caused by a change in the dystrophin gene. Gene therapy for Duchenne is centered on the goal of successfully introducing a smaller, but efficient version of dystrophin into the muscle cell. Muscle stabilizing proteins, such as GALGT2, can be introduced via gene therapy with the aim of compensating for the missing dystrophin.
Abby Bronson, PPMD's Senior Vice President of Research Strategy, explains what makes this approach to treating Duchenne so unique: "The absence of dystrophin in muscle cells leads to membrane instability, which contributes to Duchenne's progressive muscle wasting. Over-expression of the GALGT2 gene has been seen to improve muscle pathology in pre-clinical muscular dystrophy models. This gene therapy strategy will not restore dystrophin, but recruit dystrophin surrogates to compensate for the lack of dystrophin and protect the cell membrane."
Bronson says that GALGT2 therapy, if successful, could be delivered to any person with Duchenne regardless of their mutation (e.g., deletion, duplication, non-sense mutation). Additionally it has the potential to work in combination with other therapeutic strategies.
Dr. Paul Martin, the principal investigator of this study at Nationwide Children's, along with Dr. Kevin Flanigan, thanked PPMD for supporting this research: "We are so grateful to PPMD for supporting this innovative approach to treating Duchenne. PPMD's grant helped cover expenses associated with our toxicology study where no significant treatment-dependent safety findings were observed. A toxicology study was needed to show safety at high doses of gene therapy vector. Toxicology studies such as this are both standard practice and a requirement of the FDA before clinical delivery. We look forward to moving this therapy forward to a Phase 1 clinical trial."
In January of 2017, Sarepta Therapeutics announced it had entered into an exclusive license agreement with Nationwide Children's Hospital for their GALGT2 gene therapy program.
If successful, GALGT2 therapy is intended to help prevent the loss of cardiac function in Duchenne as well. Addressing the significant cardiac issues in Duchenne are another funding priority of PPMD. Updates on this project, as well as other grants awarded as part of PPMD's Gene Therapy Initiative, will be presented at the organization's Annual Conference, June 26-30, in Orlando, FL.
To learn more about PPMD's Gene Therapy Initiative, click here.
About Parent Project Muscular Dystrophy
Duchenne is a fatal genetic disorder that slowly robs people of their muscle strength. Parent Project Muscular Dystrophy (PPMD) is the largest most comprehensive nonprofit organization in the United States focused on finding a cure for Duchenne muscular dystrophy—our mission is to end Duchenne.
We invest deeply in treatments for this generation of people affected by Duchenne and in research that will benefit future generations. We advocate in Washington, DC, and have secured hundreds of millions of dollars in funding. We demand optimal care, and we strengthen, unite and educate the global Duchenne community.
Everything we do—and everything we have done since our founding in 1994—helps people with Duchenne live longer, stronger lives. We will not rest until every person has a treatment to end Duchenne. Go to www.ParentProjectMD.org for more information or to learn how you can support our efforts and help families affected by Duchenne. Follow PPMD on Facebook, Twitter, and YouTube.