Glycomine’s Natural History Study Informs Potentially Lifesaving Update to Standard of Care for PMM2-CDG Patients
These data provide key insights to improve standard of care, as early recognition of adrenal insufficiency and initiation of glucocorticoid replacement therapy and stress dosing could be lifesaving.
- These data provide key insights to improve standard of care, as early recognition of adrenal insufficiency and initiation of glucocorticoid replacement therapy and stress dosing could be lifesaving.
- The authors conclude that morning cortisol and ACTH levels should be evaluated at least annually for all patients with PMM2-CDG.
- Through an international collaboration, this study was the first to identify that patients with PMM2-CDG are at risk for secondary adrenal insufficiency and to suggest that morning cortisol and ACTH monitoring should become part of standard care in these patients.
- The natural history study completed enrollment with 139 PMM2-CDG patients at 11 sites around the world (ClinicalTrials.gov Identifier: NCT03173300 ).