aceneuramic acid

Aceneuramic acid, also known as N-acetylneuraminic acid (Neu5Ac) or sialic acid, is a naturally occurring sugar acid and the predominant form of sialic acids in human cells. It plays a crucial role in cell recognition, signaling, and immune responses as a component of glycoproteins and glycolipids. Aceneuramic acid is used as substrate replacement therapy for GNE myopathy (distal myopathy with rimmed vacuoles), an ultra-orphan muscle disease caused by mutations in the GNE gene that impair endogenous synthesis of sialic acids. By supplementing aceneuramic acid orally—often in an extended-release formulation—the drug compensates for the metabolic deficiency, restoring cellular levels of Neu5Ac and improving muscle function. Clinical trials have demonstrated its efficacy in slowing progression of muscle weakness associated with GNE myopathy[1][3][4][5][6][7].

Brand names

AcenobelKepnetic

Other names

sialic acidsialic acid extended release