Journal
JOURNAL OF SLEEP RESEARCH
Volume 30, Issue 5, Pages -Publisher
WILEY
DOI: 10.1111/jsr.13296
Keywords
biomarkers; electrophysiology; excessive daytime sleepiness; hypersomnia; sleep– wake disorders
Categories
Funding
- Schweizerischer Nationalfonds zur Forderung der Wissenschaftlichen Forschung [320030_185362]
- UCB Pharma GmbH
- Jazz Pharmaceuticals
- DLF Bern Biobank Call 2017
- Swiss National Science Foundation (SNF) [320030_185362] Funding Source: Swiss National Science Foundation (SNF)
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The SPHYNCS study aims to investigate the clinical presentation, pathophysiology, and long-term course of Narcolepsy type 1 (NT1) and the narcoleptic borderland (NBL) disorders, in order to validate new and reevaluate established markers for the characterization of NBL and facilitate the diagnostic process. The study involves multiple Swiss sleep centers and will prospectively enroll over 500 patients with excessive daytime sleepiness, hypersomnia, or suspected disorders of hypersomnolence, with the goal of improving understanding, diagnosis, and management of these conditions.
Narcolepsy type 1 (NT1) is a disorder with well-established markers and a suspected autoimmune aetiology. Conversely, the narcoleptic borderland (NBL) disorders, including narcolepsy type 2, idiopathic hypersomnia, insufficient sleep syndrome and hypersomnia associated with a psychiatric disorder, lack well-defined markers and remain controversial in terms of aetiology, diagnosis and management. The Swiss Primary Hypersomnolence and Narcolepsy Cohort Study (SPHYNCS) is a comprehensive multicentre cohort study, which will investigate the clinical picture, pathophysiology and long-term course of NT1 and the NBL. The primary aim is to validate new and reappraise well-known markers for the characterization of the NBL, facilitating the diagnostic process. Seven Swiss sleep centres, belonging to the Swiss Narcolepsy Network (SNaNe), joined the study and will prospectively enrol over 500 patients with recent onset of excessive daytime sleepiness (EDS), hypersomnia or a suspected central disorder of hypersomnolence (CDH) during a 3-year recruitment phase. Healthy controls and patients with EDS due to severe sleep-disordered breathing, improving after therapy, will represent two control groups of over 50 patients each. Clinical and electrophysiological (polysomnography, multiple sleep latency test, maintenance of wakefulness test) information, and information on psychomotor vigilance and a sustained attention to response task, actigraphy and wearable devices (long-term monitoring), and responses to questionnaires will be collected at baseline and after 6, 12, 24 and 36 months. Potential disease markers will be searched for in blood, cerebrospinal fluid and stool. Analyses will include quantitative hypocretin measurements, proteomics/peptidomics, and immunological, genetic and microbiota studies. SPHYNCS will increase our understanding of CDH and the relationship between NT1 and the NBL. The identification of new disease markers is expected to lead to better and earlier diagnosis, better prognosis and personalized management of CDH.
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