Efficacy of Sialic Acid GNE Related Thrombocytopenia

• Status: Completed
• Trial end date: 2017-09-01
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Hadassah Medical Organization

Criteria

Inclusion Criteria:

• Patients with GNE-related macrothrombocytopenia in the investigated family

Exclusion Criteria:

• non consenting for this study

• pregnancy