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 > PMM2-congenital disorder of glycosylation
PMM2-congenital disorder of glycosylation (PMM2-CDG)
Alternative Names: Congenital Disorder of Glycosylation Type Ia; Jaeken syndrome (CDG1A)
Disease Category: Congenital Disorders of Glycosylation
The most common, yet rare, congenital disorder of glycosylation. Symptoms manifest in infancy, including hypotonia (low muscle tone), abnormal fat distribution, strabismus (crossed eyes), developmental delay, failure to thrive, hydrops fetalis (abnormal fluid build-up), intellectual disability, temporary paralysis, peripheral neuropathy, kyphoscoliosis (abnormal curvature of the spine), ataxia (impaired balance or coordination), joint contractures, vision loss, and facial dysmorphism (abnormal difference in structure).
Research groups studying this disease
Congenital Disorders of Glycosylation
Frontiers in Congenital Disorders of Glycosylation (FCDGC)
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.
CDG & Allies - PPAIN
A patient-led infrastructure for research, awareness, and education for Congenital Disorders of Glycosylation.
Amour Fund
Funds research for congenital disorders of glycosylation (CDG), advocates for screening, raises awareness, and assists families.
CDG CARE (Community Alliance and Resource Exchange)
Promotes awareness of congenital disorders of glycosylation (CDG) and NGLY1-deficiency, provides resources, and funds scientific research.
CDG Canada
Connects patients and families affected by congenital disorders of glycosylation (CDG) to clinicians and researchers in Canada and globally.