"Etude Pilote, Comparative, Monocentrique, randomisée, en Cross Over, en Double Aveugle, Contre Placebo, Testant l'efficacité de l'Huile triheptanoïne Dans Les Hémiplégies Alternantes de l'Enfant" HEMIHEP
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 发起方
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Number of neurologic paroxystic events report in patient diary
研究概览
简要总结
The purpose of this project is to study the efficacy of triheptanoin oil in patients with Alternating Hemiplegia of Childhood (AHC) due to ATP1A3 gene mutation.
详细描述
The clinical spectrum of Alternating Hemiplegia of Childhood (AHC) is wide and characterized by the association of permanent and paroxysmal (palsy, dystonia, ocular, epileptic, dysautonomic events) neurological events, with onset in childhood. Most of AHC patients carry mutations in the ATP1A3 gene. This gene encodes the Na+/K+ ATPase witch is a transmembrane ion pump generating chemical and electrical gradient of sodium and potassium across the plasma membrane. Those paroxystic events in AHC patients with mutations in the ATP1A3 gene could be associated with a glucidic/energetic metabolism or intracerebral excitability disorder.
Triheptanoin is a triglyceride, whose derivatives pass the blood - brain barrier and enhance the Krebs cycle functions. Triheptanoin could therefore allow energy supply to the brain, which is essential for the functioning of the Na+/ K+ ATPase that consumes a significant amount of energy in the brain.
The investigators goal is to do a pilot study to test the effectiveness on paroxystic manifestations and the safety of triheptanoin in a small group of patients with Alternating Hemiplegia of Childhood secondary to ATP1A3 mutations.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Crossover
- 主要目的
- Treatment
- 盲法
- Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
入排标准
- 年龄范围
- 15 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •AHC with mutation in ATP1A3 gene
- •Age ≥ 15 years and 3 months
- •≥ 6 neurological paroxystic events during the last 3 months prior to the beginning of the study
- •No specific diet
- •Covered by french social security
- •Patients who freely agree to participate in this study and understand the nature, risks and benefits of this study and give their written informed consent. (In addition to the requirement for the consent of parents or the legal representative, adolescents can provide additional informed consent to participate in clinical trials)
排除标准
- •Age < 15 years and 3 months
- •Evidence of psychiatric disorder
- •Comorbid medical condition that would render them unsuitable for the study, e.g. HIV, diabetes
- •Pregnant or parturient or lactating women
- •Absence of double effective contraception at the women old enough to procreate
- •Unwillingness to be informed in case of abnormal MRI
- •Absence of signed informed consent
- •No covered by french social security
- •Persons deprived of their liberty by judicial or administrative decision
- •Person subject to an exclusion period for another research
- •Subjects with exclusion criteria required by french law
研究组 & 干预措施
Triheptanoin
Triheptanoin/ Placebo Randomized to receive active Triheptanoin first for 12 weeks. At cross-over, participants will receive placebo for 12 weeks.
Each drug will be dispensed successively. A one-month wash out period is planned for 4 weeks between triheptanoine and placebo phases.
干预措施: Triheptanoin (Drug)
Placebo
Placebo / Triheptanoin Randomized to receive active Placebo first for 12 weeks. At cross-over, participants will receive Triheptanoin for 12 weeks.
Each drug will be dispensed successively. A one-month wash out period is planned for 4 weeks between placebo and triheptanoin phases.
干预措施: Placebo (Drug)
结局指标
主要结局
Number of neurologic paroxystic events report in patient diary
时间窗: 7 months
visit 1 at day 0, visit 2 at week 12, visit 3 at week 16, visit 4 at week 28
次要结局
- Clinical Safety as measured by questionnaire(7 months)
- Composite score allying the number of neurological paroxystic events, their duration and severity.(7 months)
- Clinical Global Impression Scales - Improvement(7 months)
- The Short Form (36) Health Survey(7 months)
- Biological Safety as measured by acylcarnitine profile, organic acid dosage(7 months)
- Brain 31phosphorus magnetic resonance spectroscopy(7 months)