NameClinical and Basic Investigations into Congenital Disorders of Glycosylation
StatusOpen to enrollment
Number of patients enrolledUp to 100
SummaryThe 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.
How to participatePlease contact a clinical site investigator if you are interested in participating in this study.