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.

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

The project population consists of subjects, who were referred to the outpatient clinic / sleep center of one of the study sites for further investigation, due to complaints of EDS and / or H and / or suspected Central disorders of hypersomnolence (CDH), fulfilling inclusion / exclusion criteria and a control population as well as healthy controls.