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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)View Disease Definition
8401: Clinical and Basic Investigations into Congenital Disorders of Glycosylation (NCT04199000)
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).
CDG & Allies - PPAIN
A patient-led infrastructure for research, awareness, and education for Congenital Disorders of Glycosylation.
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.
Connects patients and families affected by congenital disorders of glycosylation (CDG) to clinicians and researchers in Canada and globally.