Pompe disease is a rare inherited neuromuscular disorder caused due to a defect in the acid alpha-glucosidase (GAA) gene. The USFDA has recently approved avalglucosidase alfa-ngpt to treat patients with late-onset Pompe disease aged one year and above. Pompe disease has variable rates of disease progression and different ages of onset and is responsible for premature death. It also shows debilitating effects on the patient’s quality of life.
Patients with Pompe disease have an enzyme deficiency that results in the accumulation of glycogen in skeletal and heart muscles, thereby causing muscle weakness and premature death from respiratory or heart failure. The USFDA has recently approved an enzyme replacement therapy, avalglucosidase alfa-ngpt, that helps to reduce glycogen accumulation. Avalglucosidase alfa-ngpt is administered intravenously in patients aged one year or older. The safety…
