Background: 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.
Methods: In step one of the six-step process to develop the COS, we will identify relevant outcomes through a rapid literature review and candidate outcomes survey. A two-phase screening approach will be implemented to identify eligible publications, followed by extraction of outcomes and other pre-specified data elements. Simultaneously, we will conduct a candidate outcomes survey with children with MPS and their families to identify outcomes most important to them. In step two, HCPs experienced in treating patients with MPS will be invited to review the list of outcomes generated in step one and identify additional clinically relevant outcomes. We will then ask patients/families, HCPs, and policymakers to rate the outcomes in a set of Delphi Surveys (step three), and to participate in a subsequent consensus meeting to finalize the COS (step four). Step five involves establishing a set of outcome measurement instruments for the COS. Finally, we will disseminate the COS to knowledge users (step six).
Discussion: The proposed COS will inform the choice of outcomes to include in the MPS registry and, more broadly, promote the standardized collection of patient-oriented outcomes for pediatric MPS research. By involving patients/families from the earliest stage of the research, we will ensure that the COS will be relevant to those who will ultimately benefit from the research.
- Beth K Potter (PI): School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, Canada
- Alison H Howie: School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, Canada
- Kylie Tingley: School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, Canada
- Michal Inbar-Feigenberg: The Hospital for Sick Children, Toronto, ON, Canada.
- John J Mitchell: McGill University Health Centre, Montreal, QC, Canada
- Nancy J Butcher: Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada; Department of Psychiatry, University of Toronto, Toronto, ON, Canada
- Martin Offringa: Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada; Department of Pediatrics, University of Toronto, Toronto, ON, Canada
- Maureen Smith: Patient Partner, Canadian Organization for Rare Disorders, Ottawa, ON, Canada
- Kim Angel: Canadian MPS Society, Vancouver, BC, Canada
- Jenifer Gentle: Patient/Family Partner, Vancouver, BC, Canada
- Alexandra Wyatt: Canadian MPS Society, Vancouver, BC, Canada
- Philippe M Campeau: Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, QC, Canada
- Alicia Chan: Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada
- Pranesh Chakraborty: Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada
- Farah El Turk: McGill University Health Centre, Montreal, QC, Canada
- Eva Mamak: Department of Psychology, The Hospital for Sick Children, Toronto, ON, Canada
- Aizeddin Mhanni: Department of Pediatrics and Child Health, and Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada
- Becky Skidmore: Ottawa Hospital Research Institute, Ottawa, ON, Canada
- Rebecca Sparkes: Department of Medical Genetics and Pediatrics, University of Calgary, Calgary AB, Canada
- Sylvia Stockler: Biochemical Diseases, BC Children’s Hospital, Vancouver, BC, Canada
Disease Category: Endocrine & metabolic
Disease Name: Mucopolysaccharidoses (MPS)
Age Range: 0 - 18
Sex: Either
Nature of Intervention: Any
- Clinical experts
- Consumers (caregivers)
- Consumers (patients)
- Epidemiologists
- Families
- Methodologists
- Patient/ support group representatives
- Policy makers
- Researchers
- Service providers
- Service users
- COS for clinical trials or clinical research
- Recommendations for outcome measures (measurement/how)
- Consensus meeting
- Delphi process
- Literature review
- Survey
We propose a six-step process to develop the COS. In step one, we will identify relevant outcomes through a rapid literature review and candidate outcomes survey. A two-phase screening approach will be implemented to identify eligible publications, followed by extraction of outcomes and other pre-specified data elements. Simultaneously, we will conduct a candidate outcomes survey with children with mucopolysaccharidosis (MPS) and their families to identify outcomes most important to them. In step two, health care providers (HCPs) experienced in treating patients with MPS will be invited to review the list of outcomes generated in step one and identify additional clinically relevant outcomes. We will then ask patients/families, HCPs, and policymakers to rate the outcomes in a set of Delphi Surveys (step three), and to participate in a subsequent consensus meeting to finalize the COS (step four). Step five involves establishing a set of outcome measurement instruments for the COS. Finally, we will disseminate the COS to knowledge users (step six).