PBGENE-DMD gene editing treatment leads to safe and long-term functional improvement in humanized DMD-disease mouse model


Topic:

Pre-Clinical Research

Poster Number: 142 M

Author(s):

Adam Mischler, PhD, Precision Biosciences, Whitney Lewis, Precision BioSciences, Wendy Shoop, PhD, Precision BioSciences, Traci Reddick, Precision BioSciences, Dan Nazarenko, Precision BioSciences, Nicole Heard, Precision BioSciences, Ben Morris, Precision BioSciences, Haley Grimason, Precision BioSciences, Krsna Rangarajan, Precision BioSciences, Cheng-Wei Wang, PhD, Precision BioSciences, Kalpana Kodi, Precision BioSciences, Dominique Burgess, Precision BioSciences, Katie Poe, Precision BioSciences, Gary Owens, MS, Precision Biosciences, Jeff Smith, PhD, Precision BioSciences, Cassandra Gorsuch, PHD, Precision BioSciences

Duchenne muscular dystrophy (DMD) is a fatal genetic disorder associated with mutations in the dystrophin gene that lead to expression of a non-functional protein, resulting in progressive loss of muscle function. Current treatments, such as gene therapies that express a synthetic micro-dystrophin protein missing many essential protein domains, have shown limited improvement to disease prognosis and have not met critical functional endpoints. The long-term efficacy of micro-dystrophin gene therapies remains uncertain, particularly in pediatric patients where muscle turnover and growth can dilute transgene expression. Alternatively, a gene editing approach could allow for lifelong benefits of muscle retention and function by permanently correcting the root cause of the disease. PBGENE-DMD is a gene editing therapy that delivers two ARCUS nucleases using a single AAV to excise exons 45-55 in the dystrophin gene and restore expression of a functional protein. This functional dystrophin is found in a subset of Becker Muscular Dystrophy patients who express mild symptoms or are asymptomatic. Up to 60% of DMD patients have mutations in the 45-55 mutation hotspot targeted by PBGENE-DMD, allowing for treatment of a broad patient population. Here, we demonstrate long-term efficacy improvement and safety after PBGENE-DMD treatment in two studies utilizing a humanized DMD mouse model. In the first study evaluating PBGENE-DMD efficacy, we observed continual increases in dystrophin protein and dystrophin positive cells across skeletal and cardiac muscle tissues over 9 months. Functional analysis of muscle force output (MFO) showed significant improvement over 9 months, reaching 92% of the MFO of non-diseased mice. Additionally, we conducted a Good Laboratory Practice (GLP) toxicology and pharmacokinetic mouse study and observed improvements in clinical chemistry and muscle injury pathology after treatment with PBGENE-DMD. These nonclinical studies support the potential long-term efficacy of PBGENE-DMD and demonstrate an acceptable safety and tolerability profile for clinical trials.