Sanofi Genzyme, the specialty care global business unit of Sanofi, announced today that the first patient has been enrolled and received an infusion in a pivotal Phase 3 clinical trial named COMET for the investigational therapy neoGAA. NeoGAA is a second-generation enzyme replacement therapy being studied for the treatment of Pompe disease. Pompe disease is a progressive, debilitating and often fatal neuromuscular disease caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA) affecting an estimated 50,000 people worldwide. Patients often lose their ability to walk and require wheelchairs to assist with mobility. They also often experience difficulty breathing and may require mechanical ventilation to breathe. COMET is a Phase 3 randomized, multi-center, multi-national, double-blinded study to compare the efficacy and safety of repeated bi-weekly infusions of neoGAA and alglucosidase alfa in treatment-naïve patients with late-onset Pompe disease. The primary endpoint of the Phase 3 trial is the effect of neoGAA on respiratory muscle strength as measured by percent predicted forced vital capacity in the upright position. Other assessments include functional endurance measured by the 6-minute walk test, muscle strength, motor function, health-related quality of life, and patient reported outcomes. Approximately 96 patients, ages 3 and up, are expected to be enrolled in the study, which will last up to 3 years, including a 49-week blinded treatment period and a 96-week open-label treatment period. For more information on the trial, please visit https://www.clinicaltrials.gov/ or https://www.clinicaltrialsregister.eu. "The beginning of this pivotal trial is a critical milestone in Sanofi Genzyme's long history of advancing the understanding of Pompe disease," said Sanofi Genzyme Therapeutic Area Head for Rare Diseases Development Rand Sutherland, M.D. "We are committed to researching and developing novel treatment options to address the unmet needs of Pompe patients." "Pompe disease is a serious and progressive condition," said Shafeeq S. Ladha, M.D., Ira A. and Mary Lou Fulton Chair in Motor Neuron Diseases, Director, Gregory W. Fulton ALS and Neuromuscular Disorders Center, Department of Neurology, Barrow Neurological Institute. "My hope is that a second generation enzyme replacement therapy with improved targeting to skeletal muscle may provide additional benefit to patients with this debilitating disease." About neoGAANeoGAA is an investigational second-generation alglucosidase alfa enzyme replacement therapy that has been specifically designed for enhanced receptor targeting and enzyme uptake through greater affinity for the M6P receptors on muscle cells, with the aim of enhancing glycogen clearance and improving on the clinical efficacy achieved with alglucosidase alfa. In preclinical studies, neoGAA showed approximately five-fold greater potency than alglucosidase alfa in terms of tissue glycogen reduction compared to alglucosidase alfa. In the Pompe mouse model, neoGAA reduced similar levels of substrate at one-fifth the dose of alglucosidase alfa. 1 The clinical significance of this data requires further investigation. Results from the Phase 1/2 proof of concept study were reported at the WORLD Symposium earlier this year.