The Swiss Primary Hypersomnolence and Narcolepsy Cohort study (SPHYNCS): Study protocol for a prospective, multicentre cohort observational study.

Dietmann, Anelia; Wenzel, Elena; van der Meer, Julia; Ringli, Maya; Warncke, Jan D; Edwards, Ellen; Schmidt, Markus H; Bernasconi, Corrado A; Nirkko, Arto; Strub, Mathias; Miano, Silvia; Manconi, Mauro; Acker, Jens; von Manitius, Sigrid; Baumann, Christian R; Valko, Philip O; Yilmaz, Bahtiyar; Brunner, Andreas-David; Tzovara, Athina; Zhang, Zhongxing; ... (2021). The Swiss Primary Hypersomnolence and Narcolepsy Cohort study (SPHYNCS): Study protocol for a prospective, multicentre cohort observational study. Journal of sleep research, 30(5), e13296. Wiley 10.1111/jsr.13296

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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.

Item Type:

Journal Article (Original Article)


08 Faculty of Science > Institute of Computer Science (INF) > Cognitive Computational Neuroscience (CCN)
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology
04 Faculty of Medicine > Department of Gastro-intestinal, Liver and Lung Disorders (DMLL) > Clinic of Visceral Surgery and Medicine > Gastroenterology
08 Faculty of Science > Institute of Computer Science (INF)

Graduate School:

Graduate School for Health Sciences (GHS)

UniBE Contributor:

Dietmann, Anelia, Wenzel, Elena, van der Meer, Julia, Ringli, Maya, Warncke, Jan, Edwards, Ellen, Schmidt, Markus Helmut, Bernasconi, Corrado Angelo, Manconi, Mauro, Yilmaz, Bahtiyar (A), Tzovara, Athina, Largiadèr, Carlo Rodolfo, Khatami, Ramin, Bassetti, Claudio L.A.


600 Technology > 610 Medicine & health
000 Computer science, knowledge & systems
500 Science > 510 Mathematics








Chantal Kottler

Date Deposited:

12 Jul 2021 16:55

Last Modified:

13 Mar 2024 13:22

Publisher DOI:


PubMed ID:


Additional Information:

Doppelaffiliation Tzovara: Neurologie - Informatik

Uncontrolled Keywords:

biomarkers electrophysiology excessive daytime sleepiness hypersomnia sleep-wake disorders




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