RecruitingNCT04330963

International Swiss Primary Hypersomnolence and Narcolepsy Cohort Study

Sponsor

Insel Gruppe AG, University Hospital Bern

Enrollment

600 participants

Start Date

Jan 6, 2020

Study Type

OBSERVATIONAL

Conditions

Hypersomnolence Disorder Idiopathic Hypersomnia Narcolepsy

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.

Eligibility

Min Age: 10 YearsMax Age: 70 Years

Inclusion Criteria20

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 Criteria26

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