Howie AH,Tingley K,Inbar-Feigenberg M,Mitchell JJ,Butcher NJ,Offringa M,Smith M,Angel K,Gentle J,Wyatt A,Campeau PM,Chan A,Chakraborty P,El Turk F,Mamak E,Mhanni A,Skidmore B,Sparkes R,Stockler S,Potter BK,
Mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases characterized by chronic, progressive multi-system manifestations with varying degrees of severity. Disease-modifying therapies exist to treat some types of MPS; however, they are not curative, underscoring the need to identify and evaluate co-interventions that optimize functioning, participation in preferred activities, and quality of life. A Canadian pediatric MPS registry is under development and may serve as a platform to launch randomized controlled trials to evaluate such interventions. To promote the standardized collection of patient/family-reported and clinical outcomes considered important to patients/families, health care providers (HCPs), and policymakers, the choice of outcomes to include in the registry will be informed by a core outcome set (COS). We aim to establish a patient-oriented COS for pediatric MPS using a multi-stakeholder approach.
School of Epidemiology and Public Health, University of Ottawa, Room 101, 600 Peter Morand Crescent, Ottawa ON, Canada, Ottawa, ON, K1G 5Z3, Canada.
10.1186/s13063-021-05791-8 read more