Barbara Burton, MD of Lurie Children’s Hospital of Chicago states why patient registries are important, especially for rare disease populations.
As Dr. Burton explains there are several reasons why patient registries are important, including the value they provide in obtaining clinical data after a drug is approved as well as providing a better understanding of the natural history of the disease.
Dr Burton is involved in numerous registries, including MARS registry that is focused on people with Morquio syndrome type A, or mucopolysaccharidosis (MPS) IVA.
Morquio syndrome type A is due to a mutation in the GALNS gene that results is an accumulation of keratan sulfate. 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 more apparent. The small and diverse nature of persons with Morquio syndrome type A necessitates the need for a patient registry to better predict outcomes.
For more information about this rare disease, visit our MPS awareness page.