International Swiss Primary Hypersomnolence and Narcolepsy Cohort Study

Swiss Primary Hypersomnolence and Narcolepsy Cohort Study (SPHYNCS) is a cohort study on disease presentation and long-term course with an exploratory approach to detect biomarkers.

An exploratory prospective, national, multi-center cohort study on clinical, electrophysiological and biological biomarkers of disease presentation and course.

Eligibility Criteria:
Inclusion Criteria:

Study participants:

* Subjective complaints of Excessive daytime sleepiness (EDS) and/or Hypersomnia (H) as defined above
* EDS and/or H present daily or almost daily for at least 1 month prior to the consultation
* Ability and consent to undergo electrophysiological routine assessment
* Ability to give informed consent

Healthy controls:

* Age and gender matched healthy subjects
* Including blood related relatives of study participants
* Ability and consent to undergo electrophysiological routine assessment
* Ability to give informed consent

Controls with Sleep disordered breathing (SDB):

* Subjective complaints of EDS with Epworth Sleepiness Scale (ESS) \> 10 (adults) and/or H due to SDB: Presence of clinically significant and untreated obstructive sleep apnea (OSA) as determined by the investigator with an apnea-hypopnea-index \>30/h
* Multiple sleep-latency test (MSLT) mean sleep latency ≤ 8min
* Subjective and objective improvement of EDS and/or H within 3 months after treatment with
* Positive airway pressure (PAP) therapy with documented

  * Reduction of apnea-hypopnea index below \<10/h
  * Reduction of ESS by ≥ 25%
  * MSLT mean Sleep Latency \> 12min
* Ability and consent to undergo electrophysiological routine assessment
* Ability to give informed consent

Exclusion Criteria:

Study participants and controls:

* SDB for study participants and healthy controls: Presence of clinically significant and untreated obstructive sleep apnea (OSA) or central sleep apnea (CSA) as determined by the investigator or documented previously; or documentation of one of the following:

  * Apnea index (AI) \> 10 if on OSA treatment or untreated; or
  * Clinically significant hypoventilation; or
  * Noncompliance with primary OSA therapy
  * except if NT1 has been diagnosed including decreased or missing cerebrospinal fluid (CSF) hypocretin
* SDB for control population with SDB:

  * Central Sleep Apnea (CSA)
  * Noncompliance with primary OSA therapy and/or
  * No reported improvement of EDS and/or H within 3 months of positive airway pressure (PAP) treatment
* The following disorders/conditions that on clinical grounds are considered to be the cause of EDS / H

  * Other sleep disorders (e.g. Restless legs syndrome (RLS) with periodic leg movement syndrome (PLMS), sleepwalking, clear-cut circadian disorder)
  * Other neurological disorders (e.g. stroke, multiple sclerosis, parkinsonism, severe traumatic brain injury)
  * (Auto-)immune and systemic disorders (such as Hashimoto Thyroiditis, Chron's Disease, ulcerous colitis, Diabetes mellitus type I, Systemic lupus erythematosus)
  * Malignancy (except: Status in Remission for at least \> 10 years)
  * Instable psychiatric disorder (e.g. acute psychotic, acute suicidal, episode of major depression requiring in-hospital treatment, active substance abuse)
  * Active infectious disease at screening
  * Permanent medications / drugs
* Chronic infectious diseases (such as Hepatitis B/C, HIV)
* Chronic use of antibiotics
* Recent use (\< 8 weeks) of immune-modulating drugs

Healthy controls additional:

* Subjective complaints of EDS and / or H
* ESS \> 10
* Polysomnography (PSG) with AI \> 10/h and / or PLMS Index \> 30/h
* MSLT mean Sleep Latency \< 12 min