Efficacy of Sialic Acid GNE Related Thrombocytopenia
Status:
Completed
Trial end date:
2017-09-01
Target enrollment:
Participant gender:
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.