Faculty

Eva Morava-Kozicz, M.D., Ph.D.

Clinical Studies

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.
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.
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.

A Non-Interventional, Retrospective Study of the Natural History and Routine Clinical Management of Congenital Disorders of Glycosylation (CDG) (CDG) Rochester, Minn.
The purpose of this study is to collect natural history and treatment-related data of patients diagnosed with congenital disorders of glycosylation.
A Phase I study of Epalrestat Therapy in a Single Patient with Phosphomannomutase Deficiency (PMM2-CDG) Rochester, Minn.
The purpose of this study is to evaluate the safety and tolerability of oral Epalrestat therapy in a child with PMM2-CDG.
An Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of mRNA-3745 in Participants with Glycogen Storage Disease Type 1a (GSD1a) (GSD1a) Rochester, Minn.
The purpose of this study is to determine the safety and tolerability of mRNA-3745 and characterize the pharmacokinetics (PK) and pharmacodynamics (PD) response following IV administration of a single dose of mRNA-3745.