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 > PIGT-congenital disorder of glycosylation

PIGT-congenital disorder of glycosylation (PIGT-CDG)

Alternative Names: Phosphatidylinositol-Glycan Class T Protein Deficiency; Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

Disease Category: Congenital Disorders of Glycosylation

A rare, multisystemic, inherited, glycosylphosphatidylinositol anchor defect disorder, caused by an abnormal protein disrupting glycosylation. Symptoms manifest in infancy, including global developmental delay, intellectual disability, hypotonia (low muscle tone), hearing loss, seizures, hypermobile joints, facial dysmorphism (abnormal difference in structure), and skeletal, renal, cardiac, intestinal, and eye abnormalities.

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.