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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Quantitative mass spectrometry assay | Diagnostic Test | ORX-A determination by quantitative mass spectrometry |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Age of onset of hypersomnia symptoms | Day 1 | |
| Frequency of cataplexy | Up to 24 hours | |
| Characteristics of cataplexy |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital of Montpellier | Montpellier | France |
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| ID | Term |
|---|---|
| D009290 | Narcolepsy |
| D020177 | Idiopathic Hypersomnia |
| D002385 | Cataplexy |
| D000077260 | Sleepiness |
| ID | Term |
|---|---|
| D006970 | Disorders of Excessive Somnolence |
| D020919 | Sleep Disorders, Intrinsic |
| D020920 | Dyssomnias |
| D012893 | Sleep Wake Disorders |
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| Up to 24 hours |
| Average duration of cataplexy | Up to 24 hours |
| Epworth sleepiness scale (ESS) | the score will be between 0 and 24, higher scores mean a worse outcome | Day 1 |
| Narcolepsy severity scale (NSS) | the score will be between 0 and 57, higher scores mean a worse outcome | Day 1 |
| Hypersomnolence severity scale (IHSS) | the score will be between 0 and 50, higher scores mean a worse outcome | Day 1 |
| Insomnia severity index | the score will be between 0 and 32, higher scores mean a worse outcome | Day 1 |
| Iterative sleep latency tests (TILE) | Up to 24 hours |
| Presence of the HLA allele DQB1*06:02 | Day 1 |
| D009422 | Nervous System Diseases |
| D001523 | Mental Disorders |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |