Barbara Burton, MD of Lurie Children’s Hospital of Chicago discusses the latest results from the Morquio A Registry Study (MARS).
The registry data shows that persons with Morquio syndrome type A who are taking enzyme replacement therapy (ERT) experience adverse events but that those events are mostly related to the disease and not the treatment.
Morquio syndrome type A, or mucopolysaccharidosis (MPS) IVA, is due to a mutation in the GALNS gene that leads to a deficiency in the GALNS enzyme. The net result is an accumulation of keratan sulfate in cells and tissue that leads to a plethora of problems, most notably skeletal deformities. Generally, persons with Morquio syndrome type A appear healthy at birth but as they reach about the age of 2 or 3 years, characteristic symptoms will be begin to appear, most notably the course facial features (enlarged head, broad mouth, prominent cheekbones, small nose, widely spaced teeth, and widely separated eyes). As they grow, skeletal problems will become very apparent.
Managing persons is largely symptomatic and can involve multiple specialties. There is no curative treatment for this lysosomal storage disorder but elosulfase alfa, an FDA-approved ERT, can delay progression of the disease.
For more information about this rare disease, visit our MPS education page.