Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM)
Status:
Completed
Trial end date:
2012-05-01
Target enrollment:
Participant gender:
Summary
Hereditary Inclusion Body Myopathy (HIBM) is a severe progressive metabolic myopathy caused
by a defect in the biosynthetic pathway for sialic acid (SA), a critical component of many
muscle proteins, resulting in a deficiency in SA in the muscles of HIBM patients.
The effective replacement of the missing SA substrate is theoretically simple, and, in animal
models, replacement with SA showed significant restoration of sialylation biochemistry and
excellent reduction in muscle disease. These data show that replacement can achieve
significant clinical benefit in muscle pathology, function, and survival.