Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

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All Diseases > VMA21-congenital disorder of glycosylation

VMA21-congenital disorder of glycosylation (VMA21-CDG)

Alternative Names: VMA21 Deficiency With Liver Disease

Disease Category: Congenital Disorders of Glycosylation

VMA21-CDG is an extremely rare inherited condition that has only very recently been reported to cause CDG. There are only three individuals with VMA21-CDG that have been published in the medical literature so far. The main symptoms that have been described are fatty liver disease (steatohepatitis) with chronic elevation of liver transaminases (called ALT and AST) and mild hyperlipidemia (an increase in total blood cholesterol, specifically LDL cholesterol).

Research groups studying this disease

Congenital Disorders of Glycosylation

Frontiers in Congenital Disorders of Glycosylation (FCDGC)

Learn More from the Consortium

Recruiting

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.