Clinical trial: Swiss Primary Hypersomnolence and Narcolepsy Cohort Study (NCT04330963)

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
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 16 Years old.
Subject must be at most 70 Years

Patient description (medical language): A 25-year-old woman comes to the clinic with her roommate.  The roommate says that the patient has twice fallen asleep while they were talking.  The patient has regularly fallen asleep in the afternoon while reading or watching television but typically feels refreshed after a brief nap.  She also reveals that she sometimes hears a voice prior to falling asleep.  She also complains of some episodes of clumsiness that cause her to drop objects or fall. MSLT showed that the sleep latency was less than 8 min and that the patient enters rapid eye movement (REM) sleep almost immediately.

Patient description (patient's own words): I brought my roommate to the clinic because she kept falling asleep when we were having a conversation. We're both 25 and usually healthy girls. She usually takes a nap in the afternoon while reading or watching TV, but usually, she is quite energetic afterward. She told me that she sometimes hears a voice before falling asleep. How weird! And sometimes she's the clumsiest! She keeps dropping all her stuff. The doctor did a sleeping test and she found out that it takes her less than 8 min to fall asleep.

Does the patient match the trial criteria? Entailment