An Individual Patient, Open Label Study to Use ACER-001 to Treat Combined D,L-2-hydroxyglutaric Aciduria (C-2HGA)
试验速览
- 阶段
- 1 期
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 1
- 试验地点
- 2
- 主要终点
- Number of treatment related adverse events
研究概览
简要总结
This is an individual patient research protocol to treat a patient diagnosed with Combined D,L-2-hydroxyglutaric aciduria (C-2HGA) with ACER-001.
详细描述
Patient will continue to be seen during routine outpatient clinic visits every 6 months. At those visits the following will be collected: routine metabolic laboratory tests (including a complete metabolic profile, complete blood count, blood phenylacetylglutamine level, and urine organic acids), physical examinations, and an update of clinical history, especially regarding seizures and respiratory status.
Once consent is signed, the patient will continue to take ACER-001 as prescribed. The ACER-001 will be provided to the patient at no cost.
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
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Single patient with Combined D,L-2-hydroxyglutaric aciduria
- •Parental permission must be given at the start of the protocol.
- •Parents willing to adhere to the protocol
排除标准
- •Refusal or withdrawal of consent.
- •Drug Intolerance.
研究组 & 干预措施
sodium phenylbutyrate
a single patient will take sodium phenylbutyrate (ACER-001) current at a dose of 12 g/day; dose will be modified if the patient gains more than 5 kg of weight
干预措施: Sodium phenylbutyrate (Drug)
结局指标
主要结局
Number of treatment related adverse events
时间窗: 2 years
次要结局
- Change in the amount of urine D,L 2-Hydroxyglutaric acid in urine(2 years)
- Change in phenylacetylglutamine in urine(2 years)
- Change in the number of seizures reported by parents(2 years)
- Change in ventilator support(2 years)
研究者
Jerry Vockley, MD, PhD
Chief, Division of Genetic and Genomic Medicine
University of Pittsburgh