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 > SLC35A2-congenital disorder of glycosylation

SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG)

Alternative Names: Congenital Disorder of Glycosylation Type Iim (CDG2M)

Disease Category: Congenital Disorders of Glycosylation

A rare, X-linked dominant, inherited condition caused by an abnormal enzyme disrupting glycosylation. Symptoms manifest in infancy, including seizures, hypotonia (low muscle tone), global developmental delay, failure to thrive, splenomegaly (enlarged spleen), hearing and vision loss, ataxia (impaired balance or coordination), hypertrophic cardiomyopathy, coarse facial features, short limbs, scoliosis, and thrombocytopenia (low blood platelet count).

Research groups studying this disease

Congenital Disorders of Glycosylation

Frontiers in Congenital Disorders of Glycosylation (FCDGC)

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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.