Hypersomnolence Disorder, Idiopathic Hypersomnia, Narcolepsy
Conditions
Brief 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.
Detailed description
An exploratory prospective, national, multi-center cohort study on clinical, electrophysiological and biological biomarkers of disease presentation and course.
Interventions
None listed
Sponsors
Klinik Barmelweid
Zentrum für Schlafmedizin Basel
Ospedale Regionale di Lugano
Cantonal Hospital of St. Gallen
Zurzach Care Klinik für Schlafmedizin
University Children's Hospital, Zurich
University Children's Hospital Basel
Centre Lausannios de Sommeil
Private Universität Witten-Herdecke and Orfea Fachklinik für Schlafmedizin, Witten, Germany
Leiden University Medical Center, Leiden, Netherlands
University of Bologna, Bologna, Italy
Insel Gruppe AG, University Hospital Bern
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
10 Years to 70 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Proportion of study subjects with diagnosis of Narcolepsy type 1 (NT1) at follow up | 36 months |
| Proportion of study subjects with final diagnosis other than NT1 but within the group of CDH at follow up | 36 months |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Proportion of patients with autoreactive T-cell clones in NT1 and some Narcolepsy borderland (NBL) subjects but not in controls | 36 months | — |
| Preptidomic profile of NT1 and NBL in comparison to controls | 36 months | Mass spectrometry based peptidomics of cerebrospinal fluid (CSF) for the identification of Hypocretin and approximately 6000 other neuropeptides in 10 to 20 samples for each group to be analyzed. In collaboration with the group of Prof. Matthias Mann, Max Planck Institute of Biochemistry, Planegg, Germany |
| Gut microbiome of NT1 and NBL in comparison to controls | 36 months | 16S based analysis of the gut microbiome based on stool samples from all participants (where available). In collaboration with the group of Prof. Andrew Macpherson, University of Bern |
Countries
Switzerland
Contacts
Primary ContactClaudio L Bassetti, Prof.
Backup ContactJan Warncke, PhD
Outcome results
None listed