NCT03734263已完成2 期
Pilot Clinical Trial to Investigate the Safety and Efficacy of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency.
适应症
干预措施
相关药物
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Efficacy: blood lactate (mmol/L)
研究概览
简要总结
In this study phenylbutyrate is used for patients with pyruvate dehydrogenase complex deficiency. The aim of the study is to investigate the safety and efficacy of therapy.
详细描述
The Investigator will evaluate the safety and efficacy of a 4-weeks treatment with sodium phenylbutyrate in patients with pyruvate dehydrogenase complex deficiency. Efficacy will be evaluated based on biochemical endpoints (blood lactate and pyruvate).
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
- 3 Months 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Subject must be older than 3 months old and younger than 18 years old.
- •Clinical diagnosis of PDC deficiency confirmed by DNA testing showing a missense mutation in the PDHA1 gene.
- •Lactate concentration ≥ 2.5 mmol/l or ≥ 2 mmol/l, respectively in venous or arterial blood samples.
- •Provision of signed and dated informed consent form by the parents/legal guardians of the patient
- •Negative pregnancy test for women of childbearing potential, and agree to use effective form of contraception until 6 weeks post treatment.
排除标准
- •Frameshift or nonsense mutations of the PDHA1 gene.
- •Defects affecting any gene encoding PDC subunits other than PDHA1
- •Secondary forms of lactic acidosis (e.g. impaired oxygenation or circulation).
- •Tracheostomy or requirement for artificial ventilation.
- •Hyperlactatemia or organic acidosis associated with other metabolic disorders (e.g. biotinidase deficiency, primary disorders of gluconeogenesis, organic acidurias, primary defects of fatty acids oxidation)
- •Evidence of hepatic insufficiency, renal insufficiency, edema with sodium retention, cardiac arrhythmia, congenital heart defects, hypertension, blood dyscrasia, symptomatic pancreatitis, or inflammatory bowel disease.
- •Any clinical condition or medications known to significantly affect renal clearance.
- •Any other condition that, in the opinion of the Investigator, may compromise the safety or compliance of the patient or would preclude the patient from successful completion of the study.
- •Known allergic reactions to components of the study agent.
- •Treatment with another investigational drug or other intervention (including DCA) or participation in a clinical study with an investigational drug within 6 months prior to enrolment.
- •Pregnancy or lactation.
研究组 & 干预措施
open label
Experimental
sodium phenylbutyrate
干预措施: sodium phenylbutyrate (Drug)
结局指标
主要结局
Efficacy: blood lactate (mmol/L)
时间窗: four weeks after starting therapy
blood lactate (mmol/L)
次要结局
- Efficacy: urinary lactate (mmol/mol crea)(four weeks after starting therapy)
- Efficacy: blood pyruvate (mmol/L)(four weeks after starting therapy)
- Efficacy:urinary lactate (mmol/mol crea)(two weeks after starting therapy)
- Safety and tolerability:Number of participants with treatment-related adverse events as assessed by CTCAE v4.0(two weeks after starting therapy)
- Safety and tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0(four weeks after starting therapy)
研究者
Nicola Brunetti-Pierri
Principal Investigator
Fondazione Telethon
研究点 (1)
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