Disease Directory Narcolepsy with Cataplexy
Neurological

Narcolepsy with Cataplexy

Also known as: Type 1 narcolepsy, NT1, hypocretin deficiency syndrome, Gelineau disease

Prevalence

1-5 per 10,000 (Orphanet)

Onset

Childhood, Adolescent, Adult

Type

Autoimmune (HLA-associated, hypocretin neuron destruction)

Gene

HCRT (hypocretin/orexin pathway); HLA-DQB1*06:02 association

About Narcolepsy with Cataplexy

Type 1 narcolepsy (narcolepsy with cataplexy) is caused by autoimmune destruction of hypothalamic hypocretin (orexin)-producing neurons, resulting in CSF hypocretin-1 levels below 110 pg/mL. Clinical tetrad includes excessive daytime sleepiness, cataplexy (sudden loss of muscle tone triggered by emotion), sleep paralysis, and hypnagogic hallucinations. Approved treatments include sodium oxybate (Xyrem/Lumryz), pitolisant (Wakix), and modafinil/solriamfetol for sleepiness.

Common Clinical Features

Excessive daytime sleepiness Cataplexy triggered by emotion Sleep paralysis Hypnagogic hallucinations Fragmented nighttime sleep Automatic behavior Weight gain

Clinical Trial Eligibility Tips

What to know before applying to Narcolepsy with Cataplexy trials.

CSF hypocretin-1 level below 110 pg/mL is the gold standard diagnostic marker for NT1 trials and confirms autoimmune subtype

Polysomnography followed by Multiple Sleep Latency Test (MSLT) showing mean sleep latency <8 min and 2+ SOREMPs is required

Current medications (sodium oxybate, stimulants) require washout periods before PSG/MSLT and before enrollment in many trials

HLA-DQB1*06:02 typing is often performed at screening — presence supports NT1 diagnosis but absence does not exclude

Patient Resources

Patient Organization

Narcolepsy Network

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Natural History Registry

Narcolepsy Network Patient Registry

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Orphanet

European reference resource for rare diseases (ORPHA:2073)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Narcolepsy with Cataplexy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Narcolepsy with Cataplexy. Updated daily.

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