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

Area of Science:

• Pediatric rare diseases
• Metabolic disorders
• Evidence-based medicine

Background:

• Treatment guidance for pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is hindered by inconsistent outcome selection and measurement.
• Variability in outcomes complicates the comparison and synthesis of research findings.
• Developing standardized Core Outcome Sets (COSs) is crucial for advancing research in these conditions.

Framework:

• A Delphi survey methodology was employed, involving parents, caregivers, health professionals, and policy advisors.
• Participants rated the criticality of candidate outcomes over three rounds to progressively refine lists.
• A consensus workshop utilized nominal group techniques, discussion, and voting to finalize the COSs.

Implementation:

• The Delphi process involved 85, 61, and 53 participants across three rounds.
• Candidate lists were reduced to 20 outcomes per disease for workshop discussion.
• A consensus workshop with 18 participants resulted in finalized COSs of 8 outcomes for MCAD deficiency and 9 for PKU, including measurement recommendations.

Implications:

• These represent the first pediatric COSs for MCAD deficiency and PKU.
• Adoption of these COSs in future research will optimize resource allocation.
• Standardized outcomes will enhance the ability to compare studies and ultimately improve patient care for these rare diseases.