Evaluate the Long Term Effectiveness & Safety of the Use of Carglumic Acid (Carbaglu®) in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 3
- 试验地点
- 1
- 主要终点
- Number of emergency visits due to hyperammonemia within 12 months period
研究概览
简要总结
Evaluate the Long Term Effectiveness & Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).
详细描述
Study procedures:
A. Study period: 36 months; treatment period: 12 months.
B. Patients will receive Carglumic Acid (Carbaglu®) 50 mg/kg/day in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12).
C. Patients need to regularly come back for follow up examination on Day 0, month 3, month 6, and month 12.
D. Patients should report any adverse event that occur during treatment period.
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
- 0 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •PA or MMA confirmed using the following criteria:
- •PA confirmed by the measurement of acylcarnitine profile, urine organic acid, measurement of propionyl Co-A carboxylase in leukocytes or cultured fibroblasts or by DNA molecular testing of PCCA (Propionyl CoA Carboxylase, Alpha Polypeptide) or PCCB (propionyl CoA carboxylase, beta polypeptide) gene
- •MMA confirmed by the measurement of acylcarnitine profile, urine organic acid, measurement of methymalonyl Co-A mutase in culture fibroblasts or DNA molecular testing of mutgene.
- •Male or female Children of 18 years old or less.
- •Had experienced Hyperammonemia(NH3 ≧100 uM) before.
- •Not participating in any other clinical trial in the previous 30 days
排除标准
- •Patients with other organic acidemia or any other cause of hyperammonemia
- •Patient receiving other investigational therapy for PA or MMA
- •Patient with PA or MMA and other inherited genetic conditions or congenital anomalies
- •Past history of hypersensitivity or drug allergy to Carbaglu®
研究组 & 干预措施
Receive Carglumic Acid
Experimental Case_ Carglumic Acid
干预措施: Carglumic Acid (Carbaglu®) (Drug)
结局指标
主要结局
Number of emergency visits due to hyperammonemia within 12 months period
时间窗: 12 months
Adverse Events
次要结局
- Time to first visit to the ER due to hyperammonemia from starting the treatment(12 months)
- Assessment of Plasma ammonia level(Baseline,3,6,9 and 12,months after receiving Carbaglu.)
- Number of days of hospitalization(12 months)
- Assessment of Acylcarnitine level(Baseline,3,6,9 and 12,months after receiving Carbaglu.)
- Assessment of urine organic acid level(Baseline,3,6,9 and 12,months after receiving Carbaglu.)
- Assessment of Plasma aminoacids' level(Baseline,3,6,9 and 12,months after receiving Carbaglu.)
- Assessment of Methylmalonic acid level(Baseline,3,6,9 and 12,months after receiving Carbaglu.)