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8401: Clinical and Basic Investigations into Congenital Disorders of Glycosylation


The investigators are conducting a natural history study of patients with congenital disorders of glycosylation (CDG). The study will look into the progression of the disease amongst the participants and also look at the clinical symptoms and how they vary amongst different diseased population groups. The participants will be asked to fill out questionnaires either on their own or with a provider that will grade the severity of disease and document symptoms and diet. Participants will have an opportunity to submit blood, urine, and stool samples that will be tested for biomarkers for CDG.

Participants will also complete dietary food records, physical exams, CDG scores, and the PROMIS questionnaires to assess disease progression and severity.

Who is eligible to participate?

Patients diagnosed with congenital disorders of glycosylation based on genetic confirmatory testing.

Who is not eligible to participate?

Patients without congenital disorders of glycosylation.

How to participate

Please contact a clinical site investigator if you are interested in participating in this study.

This data was sourced from on 14 October 2022. Modifications include:

  • Heading "Detailed Description:" changed to "Summary"
  • Heading "Inclusion Criteria:" changed to "Who is eligible to participate?"
  • Heading "Exclusion Criteria:" changed to "Who is Not eligible to participate?"
  • Excludes Study Design and Outcome Measures sections