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All Diseases > Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation (CDG)
Disease Category: Congenital Disorders of Glycosylation
Congenital disorders of glycosylation (CDG) is a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Most children who have CDG have neurological issues and symptoms, developmental problems, growth delays, and problems with organs not working like they should. CDG is not just one disorder, but rather, a group of disorders. There are many types.
Research groups studying this disease
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.
8403: A Randomized, Double-blind, Placebo-controlled Study Evaluating Acetazolamide Efficacy in Ataxia in PMM2-CDG (NCT#04679389)
This study is double-blind, placebo-controlled, 1:1 randomized clinical therapeutic trial of acetazolamide for the treatment of ataxia in patients with PMM2-CDG. Clinical history and screening data will be reviewed to determine subject eligibility. Potential subjects who have a molecularly and/or biochemical confirmed diagnosis of PMM2-CDG will be consented. Baseline data will be collected prior to randomization and at treatment initiation. Subjects who meet all inclusion criteria and none of the exclusion criteria will be enrolled into the study. Each subject who meets all the inclusion and none of the exclusion criteria will then be randomized to placebo or acetazolamide. They will be administered weight-dependent doses of acetazolamide or an equivalent volume of placebo twice daily by mouth. Enrollment will be open to individuals with a diagnosis of PMM2-CDG, 4 years and older. The trial will be performed at Seattle Children’s Hospital (Dr. Irene Chang and Dr. Christina Lam), Children’s Hospital of Philadelphia (Dr. Andrew Edmondson), and Mayo Clinic (Dr. Eva Morava-Kozicz).
A patient-led infrastructure for research, awareness, and education for Congenital Disorders of Glycosylation.
Promotes awareness of congenital disorders of glycosylation (CDG) and NGLY1-deficiency, provides resources, and funds scientific research.
Funds research for congenital disorders of glycosylation (CDG), advocates for screening, raises awareness, and assists families.
Connects patients and families affected by congenital disorders of glycosylation (CDG) to clinicians and researchers in Canada and globally.