About Congenital Disorder of Glycosylation
Congenital disorders of glycosylation (CDG) are a large group of inherited metabolic disorders affecting the addition of sugar chains (glycans) to proteins and lipids. PMM2-CDG is the most common type, caused by mutations in PMM2 encoding phosphomannomutase 2, and presents with cerebellar hypoplasia, intellectual disability, and coagulopathy. Over 150 CDG subtypes exist, each caused by mutations in different glycosylation pathway genes, with widely varying severity.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Congenital Disorder of Glycosylation trials.
Specify the CDG subtype by gene — PMM2-CDG trials differ from SLC35C1-CDG or ATP6AP1-CDG trials
Transferrin isoelectric focusing (TIEF) or transferrin glycoform mass spectrometry is required for diagnostic confirmation and monitoring
Mannose supplementation trials are specific to MPI-CDG (CDG-Ib) — this form is treatable and molecularly distinct
CDG Consortium (NCATS) registries are actively enrolling all subtypes — registration provides access to trial matching
Patient Resources
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