Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria

Author:

Pugliese Michael1,Tingley Kylie1,Chow Andrea1,Pallone Nicole2,Smith Maureen3,Chakraborty Pranesh45,Geraghty Michael T.5,Irwin Julie K.6,Mitchell John J.7,Stockler Sylvia8,Nicholls Stuart G.9,Offringa Martin1011,Rahman Alvi1,Tessier Laure A.4,Butcher Nancy J.1112,Iverson Ryan1,Lamoureux Monica4,Clifford Tammy J.1,Hutton Brian19,Paik Karen1,Tao Jessica13,Skidmore Becky9,Coyle Doug1,Duddy Kathleen8,Dyack Sarah14,Greenberg Cheryl R.15,Jain Ghai Shailly16,Karp Natalya17,Korngut Lawrence18,Kronick Jonathan1011,MacKenzie Alex19,MacKenzie Jennifer20,Maranda Bruno21,Potter Murray22,Prasad Chitra16,Schulze Andreas923,Sparkes Rebecca18,Taljaard Monica17,Trakadis Yannis24,Walia Jagdeep25,Potter Beth K.1

Affiliation:

1. School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada

2. Patient partner, Canadian Organization for Rare Disorders, Toronto, Canada

3. Newborn Screening Ontario, Ottawa, Canada

4. Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Canada

5. Divisions of Medical Genetics and Pediatric Endocrinology, Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada

6. Biochemical Diseases, British Columbia Children’s Hospital, Vancouver, Canada

7. Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Canada

8. Department of Pediatrics, University of Toronto, Toronto, Canada

9. Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada

10. Department of Psychiatry, University of Toronto, Toronto, Canada

11. Department of Pediatrics, Dalhousie University, Halifax, Canada

12. Patient partner, Canadian Phenylketonuria & Allied Disorders Inc, Toronto, Canada

13. Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada

14. Department of Medical Genetics, University of Alberta, Edmonton, Canada

15. Department of Pediatrics, Western University, London, Canada

16. Departments of Clinical Neurosciences, University of Calgary, Calgary, Canada

17. Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada

18. Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Canada

19. Division of Metabolics, Children’s Hospital of Eastern Ontario, Ottawa, Canada

20. Department of Pediatrics, McMaster University, Hamilton, Canada

21. Pathology and Molecular Medicine, McMaster University, Hamilton, Canada

22. Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Canada

23. Faculty of Medicine, University of Ottawa, Ottawa, Canada

24. Medical Genetics, and Pediatrics, University of Calgary, Calgary, Canada

25. Department of Pediatrics, Queen’s University, Kingston, Canada

Abstract

BACKGROUND Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is fragmented because of large variability in outcome selection and measurement. Our goal was to develop core outcome sets (COSs) for these diseases to facilitate meaningful future evidence generation and enhance the capacity to compare and synthesize findings across studies. METHODS Parents and/or caregivers, health professionals, and health policy advisors completed a Delphi survey and participated in a consensus workshop to select core outcomes from candidate lists of outcomes for MCAD deficiency and PKU. Delphi participants rated the importance of outcomes on a nine-point scale (1–3: not important, 4–6: important but not critical, 7–9: critical). Candidate outcomes were progressively narrowed down over 3 survey rounds. At the workshop, participants evaluated the remaining candidate outcomes using an adapted nominal technique, open discussion, and voting. After the workshop, we finalized the COSs and recommended measurement instruments for each outcome. RESULTS There were 85, 61, and 53 participants across 3 Delphi rounds, respectively. The candidate core outcome lists were narrowed down to 20 outcomes per disease to be discussed at the consensus workshop. Voting by 18 workshop participants led to COSs composed of 8 and 9 outcomes for MCAD deficiency and PKU, respectively, with measurement recommendations. CONCLUSIONS These are the first known pediatric COSs for MCAD deficiency and PKU. Adoption in future studies will help to ensure best use of limited research resources to ultimately improve care for children with these rare diseases.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology, and Child Health

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