international swiss primary hypersomnolence and narcolepsy cohort study

Conditions: Narcolepsy; Idiopathic Hypersomnia; Hypersomnolence Disorder

Summary: 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