Efficacy of Sialic Acid GNE Related Thrombocytopenia

Summary

Sialic Acid-Extended Release (SA-ER, aceneuramic acid, UX001) is an extended release formulation of sialic acid (SA, also known as N-acetylneuraminic acid or NANA). The SA-ER is currently studied as a substrate replacement therapy for patients with GNE myopathy. The investigators plan to study the SA-ER compound in a cohort of five patients with GNE-related thrombocytopenia.

Timeline

Start

2016-09

Primary completion

2017-09

Completion

2017-09

Drugs

Indications