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Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Rochester, Minn.
The purpose of this study is to establish the prevalence and severity of specific morbid indicators of disease severity such as specific organ system involvement, degree of cognitive disability, and case-fatality associated with various congenital disorders of glycosylation (CDG), and establish a dynamic platform to effectively disperse clinically relevant findings to families, non-expert clinicians and researchers, as well as provide a verified method to link these individuals to experts in CDG.
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Dietary Monosaccharide Supplementation in Patients with Congenital Disorders of Glycosylation
Rochester, Minn.
The purpose of this study is to assess the safety and tolerability of oral monosaccharide (galactose and fucose) treatment in a small pilot group of congenital disorders of glycosylation patients.
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Severity of Clinical Symptoms in PMM2 Patients Affected by mtDNA Variants and Haplotypes
Rochester, Minn.
The purpose of this study is to to investigate if variable phenotypic expression, with the same genotype, could be explained by mtDNA haplotype variations.
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