Publikation
The Swiss Primary Hypersomnolence and Narcolepsy Cohort study (SPHYNCS): Study protocol for a prospective, multicentre cohort observational study.
Wissenschaftlicher Artikel/Review - 04.04.2021
Dietmann Anelia, Wenz Elena, van der Meer Julia, Ringli Maya, Warncke Jan D, Edwards Ellen, Schmidt Markus, 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, Largiadèr Carlo R, Tafti Mehdi, Latorre Daniela, Sallusto Federica, Khatami Ramin, Bassetti Claudio
Bereiche
PubMed
DOI
Kontakt
Zitation
Art
Zeitschrift
Veröffentlichungsdatum
eISSN (Online)
Seiten
Kurzbeschreibung/Zielsetzung
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.