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A Phase 3, Open-Label, Extension Study to Assess the Long-term Safety and Efficacy of AVTX-803 in Subjects with Leukocyte Adhesion Deficiency Type II (LAD II)
Rochester, Minn.
The purpose of this study is to assess the long-term safety and effectiveness of AVTX-803 in subjects with leukocyte adhesion deficiency Type II (LAD II).
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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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Unexplored Pathways: The Impact of Abnormal Glycosylation on the Hypothalamic-Pituitary Adrenal and -Gonadal Axes and Bone Health in Patients with Congenital Disorders of Glycosylation
Rochester, Minn.
The objectives of this study are to characterize the endocrine phenome of 60 patients with PMM2-CDG through a cross-sectional measurement of endocrine markers of adrenal, thyroid, and gonadal function, bone health, growth and glucose metabolism, along with clinical data and bone density measures, and to establish distinctive glycoproteomic patterns associated with endocrinopathies in PMM2-CDG, and identify biomarkers for adrenal, thyroid, glucose, gonadal, and bone disease.
Closed for Enrollment
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A Phase 3, Randomized, Double-blind, Two-period, Crossover, Withdrawal Study to Assess the Efficacy and
Safety of AVTX-803 in Subjects with Leukocyte Adhesion Deficiency Type II (LAD II) (AVTX-803)
Rochester, Minn.
The purpose of this study is to assess the effectiveness and safety of AVTX-803 in subjects with LAD II (SLC35C1-CDG).
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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.
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A Pivotal Phase 3 Study of FCX-007 (Genetically-Modified Autologous Human Dermal Fibroblasts) for Recessive Dystrophic Epidermolysis Bullosa (DEFI-RDEB) (DEFI-RBEB)
Rochester, Minn.
The primary objective of this study is to determine whether administration of FCX-007 in addition to standard of care improves wound healing as compared to standard of care alone (control) in children, adolescents, and adults with Recessive Dystrophic Epidermolysis Bullosa (RDEB) and confirmed mutation of the type VII collagen gene (COL7A1) gene.
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