Multiple Reaction Monitoring (MRM) Versus I 125 Radioimmunoassay (RIA) for the Quantification of Orexin-A/Hypocretin-1 Levels in Cerebrospinal Fluid: a Prospective Diagnostic Validation Study in Patients With Hypersomnolence
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 117
- 试验地点
- 1
- 主要终点
- Orexin-A dosage by radioimmunoassay
研究概览
简要总结
In humans, selective loss of orexin neurons is responsible for type 1 narcolepsy (NT1), or narcolepsy with cataplexy, or orexin deficiency syndrome.
The International Classification of Sleep Disorders 3rd edition (ICSD-3) distinguishes between hypersomnolence of central origin: NT1, narcolepsy type 2 (NT2), or narcolepsy without cataplexy, and idiopathic hypersomnia (HI). These rare conditions are all characterised by hypersomnolence (excessive daytime sleepiness, or excessive need for sleep), which is the primary and often most disabling symptom. A level of ORX-A in cerebrospinal fluid (CSF) (<110 pg/mL) is a very sensitive and specific biomarker of NT1, currently sufficient for the diagnosis of this condition. In contrast, ORX neurons are thought to be intact in IH and NT2, and the pathophysiological mechanisms underlying these diseases remain unknown. Thus, their diagnosis is based solely on clinical and electrophysiological criteria.
The objective of this project is to determine the validity of a mass spectrometric technique for the determination of ORX-A in the cerebral spinal fluid of patients suffering from hypersomnolence in comparison with the radioimmunoassay which is the reference technique.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 8 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age ≥ 8 years
- •Complaint of hypersomnolence and suspected central hypersomnolence
- •Benefiting from a standardised assessment: clinical, biological and neurophysiological
- •Lumbar puncture necessary for the assessment
- •Sufficient cerebrospinal fluid taken for biological analysis (at least 1 ml)
- •Signed informed consent
排除标准
- •Contraindication to lumbar puncture
- •Secondary hypersomnolence
- •Refusal to participate in the study or refusal of the lumbar puncture
- •Adult protected by law, or subject deprived of liberty, by judicial or administrative decision or patient under guardianship or curatorship
- •Subject not affiliated to the French social security system
- •Pregnant or breastfeeding woman
结局指标
主要结局
Orexin-A dosage by radioimmunoassay
时间窗: Day 1
Radioimmunoassay for orexin-A dosage in cerebrospinal fluid
Orexin-A dosage by Multiple Reaction Monitoring Mass Spectrometry
时间窗: Day 1 (=day of inclusion)
Multiple Reaction Monitoring mass spectrometry for orexin-A dosage in cerebrospinal fluid
次要结局
- Epworth sleepiness scale (ESS)(Day 1)
- Narcolepsy severity scale (NSS)(Day 1)
- Insomnia severity index(Day 1)
- Frequency of cataplexy(Up to 24 hours)
- Characteristics of cataplexy(Up to 24 hours)
- Hypersomnolence severity scale (IHSS)(Day 1)
- Presence of the HLA allele DQB1*06:02(Day 1)
- Age of onset of hypersomnia symptoms(Day 1)
- Average duration of cataplexy(Up to 24 hours)
- Iterative sleep latency tests (TILE)(Up to 24 hours)