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

NCT05615584 | Recruiting

• 1 other identifier: RECHMPL22_0072
• Study Type: interventional
• Target: 117
• Locations: 1 country
• Sites: 1

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.

Conditions

Narcolepsy; Idiopathic Hypersomnia; Cataplexy

Keywords

orexin/hypocretin; sleepiness

Outcome Measures

Primary Outcomes (2)

• Orexin-A dosage by Multiple Reaction Monitoring Mass Spectrometry

  Multiple Reaction Monitoring mass spectrometry for orexin-A dosage in cerebrospinal fluid

  Day 1 (=day of inclusion)

• Orexin-A dosage by radioimmunoassay

  Radioimmunoassay for orexin-A dosage in cerebrospinal fluid

  Day 1

Secondary Outcomes (10)

• Age of onset of hypersomnia symptoms

  Day 1

• Frequency of cataplexy

  Up to 24 hours

• Characteristics of cataplexy

  Up to 24 hours

• Average duration of cataplexy

  Up to 24 hours

• Epworth sleepiness scale (ESS)

  Day 1

Interventions

Quantitative mass spectrometry assay DIAGNOSTIC_TEST

ORX-A determination by quantitative mass spectrometry

Eligibility Criteria

• Age: 8 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

University Hospital of Montpellier

Montpellier, France

RECRUITING

MeSH Terms

Conditions

Narcolepsy; Idiopathic Hypersomnia; Cataplexy; Sleepiness

Condition Hierarchy (Ancestors)

Disorders of Excessive Somnolence; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Nervous System Diseases; Mental Disorders; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 26, 2022
• First Posted: November 14, 2022
• Study Start: February 15, 2023
• Primary Completion: July 30, 2025
• Study Completion: October 30, 2025
• Last Updated: May 29, 2024

Record last verified: 2024-05

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)