Spectrometry (MRM) Versus I 125 Radioimmunoassay (RIA) for Quantification of Orexin-A of Patients With Hypersomnolence

Not Applicable

Recruiting

• Conditions: Cataplexy; Narcolepsy; Idiopathic Hypersomnia

• Registration Number: NCT05615584
• Lead Sponsor: University Hospital, Montpellier

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2022-10-26
• Study First Submitted QC: 2022-11-07
• Study First Posted: 2022-11-14
• Study Start: 2023-02-15
• Status Verified: 2024-05
• Last Update Submitted: 2024-05-27
• Last Update Posted: 2024-05-29
• Primary Completion: 2025-07-30
• Study Completion: 2025-10-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 117

Inclusion Criteria

• 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

Exclusion Criteria

• 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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Orexin-A dosage by radioimmunoassay	Day 1	Radioimmunoassay for orexin-A dosage in cerebrospinal fluid
Orexin-A dosage by Multiple Reaction Monitoring Mass Spectrometry	Day 1 (=day of inclusion)	Multiple Reaction Monitoring mass spectrometry for orexin-A dosage in cerebrospinal fluid

Secondary Outcome Measures

Name	Time	Method
Hypersomnolence severity scale (IHSS)	Day 1	the score will be between 0 and 50, higher scores mean a worse outcome
Epworth sleepiness scale (ESS)	Day 1	the score will be between 0 and 24, higher scores mean a worse outcome
Narcolepsy severity scale (NSS)	Day 1	the score will be between 0 and 57, higher scores mean a worse outcome
Insomnia severity index	Day 1	the score will be between 0 and 32, higher scores mean a worse outcome
Frequency of cataplexy	Up to 24 hours
Characteristics of cataplexy	Up to 24 hours
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

Trial Locations

Locations (1)

University Hospital of Montpellier; 🇫🇷 Montpellier, France