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A Study to Develop and Validate Clinical Molecular Genetic Lab Tests for the Confirmation of Biochemical Genetic Test Results
Rochester, MN
The aim of this research study is to develop and validate several clinical molecular genetic lab tests for the confirmation of biochemical genetic test results.
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Study to Determine Effectiveness of Dietary Monosaccharide Supplementation in Patients with Congenital Disorders of Glycosylation
Rochester, MN
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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Arimoclomol Prospective Study In Patients Diagnosed With NiemannPick Disease Type C
Rochester, MN
A prospective, randomised, double-blind, placebo controlled therapeutic study in patients with confirmed diagnosis of NiemannPick disease type C (NPC). The purpose of this study is to assess the efficacy and safety of arimoclomol (compared to placebo) when it is administered as an add-on therapy to the patient's current prescribed best standard of care; patient's standard of care may, or may not, include miglustat.
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Newborn Screening and Outcomes for Congenital Adrenal Hyperplasia
Rochester, MN
The objective of this study is to evaluate the role of molecular testing to improve newborn screening (NBS) for congenital adrenal Hyperplasia (CAH).
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Inherited Muscle Diseases Repository
Rochester, MN
To establish a repository of DNA samples collected prospectively from patients with inherited myopathies of unknown molecular and/or biochemical defect. To access residual muscle specimens from diagnostic muscle biopsies obtained as part of the routine medical care. The biospecimens will be used to better understanding the underlying molecular defects and mechanisms of muscle diseases.