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GNE Myopathy or hereditary inclusion myopathy (HIBM) is a severe progressive metabolic myopathy caused by a genetic defect that results in a deficiency of sialic acid (SA). Studies have show in a mouse model of this human disease that SA replacement is a potential therapy for reducing the severity of muscle disease. Given SA's short half-life in the blood, successful use of SA replacement therapy in humans is believed to depend upon providing steady long-term exposure to the compound in an extended release from (SA Release).
A follow-up to a previous Phase 1 Study, this study has been proposed to assess the dosing and efficacy of SA-ER Therapy. This study will recruit 45 subjects over four sites (LA, NY, St. Louis, and Jerusalem) to participate. The subjects will be randomized to placebo, low dose, or high dose during the first half of this study (24 weeks). In the second half of the study (24 weeks) the placebo group of the first half will be randomized to one of the two drug doses.
The study will evaluate the safety, efficacy of SA-ER on clinical measures of muscle strength, mobility, function, as well as self-reported disability and quality of life. Dr. Fowler is the UCLA Co-PI and in charge of the Physical Therapy outcome measurements of this study.
Originally created: 8 Apr 2013 Current author: Beth Stoffmacher
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