Parent Project Muscular Dystrophy (PPMD) announced 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.
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"The absence of dystrophin in muscle cells leads to membrane instability, which contributes to Duchenne's progressive muscle wasting,” Abby Bronson, PPMD's Senior Vice President of Research Strategy said. “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.
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.