Swiss Primary Hypersomnolence and Narcolepsy Cohort Study (SPHYNCS)
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ClinicalTrials.gov Identifier: NCT04330963 |
Recruitment Status :
Recruiting
First Posted : April 2, 2020
Last Update Posted : May 23, 2022
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Condition or disease |
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Narcolepsy Idiopathic Hypersomnia Hypersomnolence Disorder |
Study Type : | Observational [Patient Registry] |
Estimated Enrollment : | 600 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Target Follow-Up Duration: | 36 Months |
Official Title: | Swiss Primary Hypersomnolence and Narcolepsy Cohort Study |
Actual Study Start Date : | January 6, 2020 |
Estimated Primary Completion Date : | December 30, 2024 |
Estimated Study Completion Date : | June 30, 2026 |

Group/Cohort |
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Hypersomnolence group
All patients referred to the outpatient clinic/sleep center for investigation due to complaints for excessive daytime sleepiness (EDS) and/or Hypersomnia (H) and/or suspected central disorder of hypersomnolence (CDH)
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Healthy controls
Healthy control subjects without complaints of EDS and /or H.
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SDB controls
Patients with EDS and diagnosis of severe sleep related breathing disorder (SBD) significantly improving with therapy.
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Pediatric Hypersomnolence group
Pediatric group aged 10-18. Same criteria for inclusion and exclusion apply as for the adult group.
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- Proportion of study subjects with diagnosis of Narcolepsy type 1 (NT1) at follow up [ Time Frame: 36 months ]
- Proportion of study subjects with final diagnosis other than NT1 but within the group of CDH at follow up [ Time Frame: 36 months ]
- Proportion of patients with autoreactive T-cell clones in NT1 and some Narcolepsy borderland (NBL) subjects but not in controls [ Time Frame: 36 months ]
- Preptidomic profile of NT1 and NBL in comparison to controls [ Time Frame: 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 [ Time Frame: 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
Biospecimen Retention: Samples With DNA

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 10 Years to 70 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
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
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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:
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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
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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
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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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04330963
Contact: Claudio L Bassetti, Prof. | +41 31 63 2 30 66 ext +41316323066 | Claudio.Bassetti@insel.ch | |
Contact: Jan Warncke, PhD | +41 31 66 4 07 99 | jan.warncke@insel.ch |
Switzerland | |
Claudio L Bassetti | Recruiting |
Bern, Switzerland, 3010 | |
Contact: Claudio L Bassetti, Prof +41316323066 ext +41316323066 Claudio.Bassetti@insel.ch | |
Contact: Jan Warncke, PhD +41 31 664 07 99 jan.warncke@insel.ch |
Study Director: | Claudio L Bassetti, Prof. | Insel Gruppe |
Responsible Party: | University Hospital Inselspital, Berne |
ClinicalTrials.gov Identifier: | NCT04330963 |
Other Study ID Numbers: |
2019-00788 |
First Posted: | April 2, 2020 Key Record Dates |
Last Update Posted: | May 23, 2022 |
Last Verified: | May 2022 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Narcolepsy Disorders of Excessive Somnolence Idiopathic Hypersomnia Sleep Disorders, Intrinsic |
Dyssomnias Sleep Wake Disorders Nervous System Diseases Mental Disorders |