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Mouse Model Points to Strategy for Treating Rare Muscle Disease & Kidney Disorders

the disease HIBM, we are hoping that humans with the same genetic mutation as in our mouse model will also respond to ManNAc. The availability of these transgenic mice will assist us greatly in assessing the appropriate dosage of the drug to test in HIBM patients.

To date, none of the offspring born to transgenic mice who received ManNAc supplementation have gone on to develop muscle weakness, but the mutant mice remain smaller than their unaffected siblings. Studies are currently ongoing in Dr. Huizings laboratory to study the mutant mice until they reach an older age when researchers can assess any onset of muscle weakness. In addition, NHGRI clinical researchers recently observed a temporary, but significant, improvement in muscle strength among HIBM patients who received intravenous immune globulin G an effect that researchers suspect was mediated through the provision of sialic acid present in the immune globulin.

NHGRI researchers expect the clinical trial of ManNAc for HIBM to begin in late summer or early fall. Based on their findings, the group is also exploring the possibility that ManNAc may benefit people suffering from diseases that involve damage to the cell layers of the kidney that are required for filtering the blood.


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