Karen Bean, Health Economist at Orchard Therapeutics, discusses healthcare resource use for patients with Mucopolysaccharidosis type III (MPS III).
MPS III, also known as Sanfilippo syndrome, is a genetic disorder characterized by the inability to break down glycosaminoglycans, specifically, heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIA is the most severe subtype and is associated with the earliest onset and the most rapidly progressive disease course. MPS IIIA patients typically become wheelchair bound by their teenage years and ultimately regress to a prolonged vegetative state until death, which occurs in the second decade of life.
The objective of this study was to explore the pattern of healthcare resource use from a cohort of US patients with a confirmed MPS III diagnosis.
ICD-10-CM codes were identified from 2017 to 2024 for a cohort of 735 patients. On average there were 879 records per patient, and the most common symptom codes were epilepsy (37%), autistic disorder (32%), diarrhea (30%), intellectual disabilities (29%), sleep apnea and abnormalities with gait and mobility (both 26%). The most common procedure codes included wheelchair accessories (42%), speech/hearing therapy (31%) and physiotherapy (31%).
Longitudinal data from birth are available for a sub-cohort of 103 patients with median age at diagnosis of 4 to 5 years old. Data from this cohort show a significant delay from symptom onset to diagnosis.
These results highlight the variety and intensity of healthcare interactions and interventions required for patients with MPS III, necessitating a multidisciplinary team to manage the multifaceted aspects of the disease.
To learn more about MPS III and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/
