A Phase 2 Study to Evaluate the Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Related Thrombocytopenia
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 入组人数
- 5
- 主要终点
- Increase in platelet count from baseline
研究概览
简要总结
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.
详细描述
The investigators identified 5 affected individuals (3 males and 2 females from three families, age 19-40 years) with GNE-related thrombocytopenia . All subjects will receive 2 gram SA-ER, three times per day for a total daily dose of 6 grams (6,000 mg). The dose should be administered with food (i.e. within 30 minutes of a meal or snack).
Efficacy will be evaluated by improvement in clinical and laboratory assessments. Results from Baseline assessments will be compared with those of post-treatment assessments with efficacy conclusions based on improvement between Baseline and the last scheduled assessment. Safety will be evaluated by the incidence and frequency of adverse events, including clinically significant changes from Baseline to scheduled time points in:
- Vital signs.
- History and physical examination findings.
- Laboratory evaluations.
- Serum uric acid levels and urinary excretion of uric acid.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 45 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with GNE-related macrothrombocytopenia in the investigated family
排除标准
- •non consenting for this study
- •pregnancy
研究组 & 干预措施
Intervention
Sialic acid-Extended release 2000 mg, three times per day (TID) for 3 months
干预措施: Sialic Acid-Extended Release (Drug)
结局指标
主要结局
Increase in platelet count from baseline
时间窗: 3 month
次要结局
- Incidence and frequency of AEs and SAEs (Safety)(3 months)