Article
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.
Molecular genetics and metabolism - 1 May 2025
Verberkmoes Sanne, Mazza Gina L, Edmondson Andrew C, Scaglia Fernando, Horikoshi Seishu, Kuschel Bryce, Janssen Mirian C H, Mousa Jehan, Larson Austin, Shah Rameen, McDonald Georgia, Sarafoglou Kyriaki, Berry Gerard, Kozicz Tamas, Lam Christina, Morava Eva
Abstract excerpt
Patient-centered outcomes, including patient-reported outcomes (PROs), are increasingly important in healthcare and research, though their use in rare diseases remains limited. In disorders with significant phenotypic variation, selecting appropriate outcome measures is crucial to ensuring the relevance of clinical trials for the patient population. Phosphomannomutase 2-CDG (PMM2-CDG) involves a complex...
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