International Swiss Primary Hypersomnolence and Narcolepsy Cohort Study

NCT04330963 | Recruiting

• 1 other identifier: 2019-00788
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

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.

Conditions

Narcolepsy; Idiopathic Hypersomnia; Hypersomnolence Disorder

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (3)

• 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

• Gut microbiome of NT1 and NBL in comparison to controls

  36 months

Study Arms (4)

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)

Healthy controls

Healthy control subjects without complaints of EDS and /or H.

SDB controls

Patients with EDS and diagnosis of severe sleep related breathing disorder (SBD) significantly improving with therapy.

Pediatric Hypersomnolence group

Pediatric group aged 10-18. Same criteria for inclusion and exclusion apply as for the adult group.

Eligibility Criteria

• Age: 10 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The project population consists of subjects, who were referred to the outpatient clinic / sleep center of one of the study sites for further investigation, due to complaints of EDS and / or H and / or suspected Central disorders of hypersomnolence (CDH), fulfilling inclusion / exclusion criteria and a control population as well as healthy controls.

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Insel Gruppe AG, University Hospital Bern: lead
• Klinik Barmelweid: collaborator
• Zentrum für Schlafmedizin Basel: collaborator
• Ospedale Regionale di Lugano: collaborator
• Cantonal Hospital of St. Gallen: collaborator
• Zurzach Care Klinik für Schlafmedizin: collaborator
• University Children's Hospital, Zurich: collaborator
• University Children's Hospital Basel: collaborator
• Centre Lausannios de Sommeil: collaborator
• Private Universität Witten-Herdecke and Orfea Fachklinik für Schlafmedizin, Witten, Germany: collaborator
• Leiden University Medical Center, Leiden, Netherlands: collaborator
• University of Bologna, Bologna, Italy: collaborator

Study Sites (1)

Claudio L Bassetti

Bern, 3010, Switzerland

RECRUITING

Related Publications (4)

• Bassetti CLA, Adamantidis A, Burdakov D, Han F, Gay S, Kallweit U, Khatami R, Koning F, Kornum BR, Lammers GJ, Liblau RS, Luppi PH, Mayer G, Pollmacher T, Sakurai T, Sallusto F, Scammell TE, Tafti M, Dauvilliers Y. Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment. Nat Rev Neurol. 2019 Sep;15(9):519-539. doi: 10.1038/s41582-019-0226-9. Epub 2019 Jul 19.

  PMID: 31324898 BACKGROUND

• Latorre D, Kallweit U, Armentani E, Foglierini M, Mele F, Cassotta A, Jovic S, Jarrossay D, Mathis J, Zellini F, Becher B, Lanzavecchia A, Khatami R, Manconi M, Tafti M, Bassetti CL, Sallusto F. T cells in patients with narcolepsy target self-antigens of hypocretin neurons. Nature. 2018 Oct;562(7725):63-68. doi: 10.1038/s41586-018-0540-1. Epub 2018 Sep 19.

  PMID: 30232458 BACKGROUND

• Bassetti C, Aldrich MS. Idiopathic hypersomnia. A series of 42 patients. Brain. 1997 Aug;120 ( Pt 8):1423-35. doi: 10.1093/brain/120.8.1423.

  PMID: 9278632 BACKGROUND

• Dietmann A, Wenz E, van der Meer J, Ringli M, Warncke JD, Edwards E, Schmidt MH, Bernasconi CA, Nirkko A, Strub M, Miano S, Manconi M, Acker J, von Manitius S, Baumann CR, Valko PO, Yilmaz B, Brunner AD, Tzovara A, Zhang Z, Largiader CR, Tafti M, Latorre D, Sallusto F, Khatami R, Bassetti CLA. The Swiss Primary Hypersomnolence and Narcolepsy Cohort study (SPHYNCS): Study protocol for a prospective, multicentre cohort observational study. J Sleep Res. 2021 Oct;30(5):e13296. doi: 10.1111/jsr.13296. Epub 2021 Apr 4.

  PMID: 33813771 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood cerebrospinal fluid (CSF) Stool

MeSH Terms

Conditions

Narcolepsy; Idiopathic Hypersomnia; Disorders of Excessive Somnolence

Condition Hierarchy (Ancestors)

Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Nervous System Diseases; Mental Disorders

Study Officials

• Claudio L Bassetti, Prof.

  Insel Gruppe

  STUDY DIRECTOR

Central Study Contacts

Claudio L Bassetti, Prof.

CONTACT

+41 31 63 2 30 66; Claudio.Bassetti@insel.ch

Jan Warncke, PhD

CONTACT

+41 31 66 4 07 99; jan.warncke@insel.ch

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 36 Months
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 6, 2020
• First Posted: April 2, 2020
• Study Start: January 6, 2020
• Primary Completion: December 30, 2024
• Study Completion (Estimated): June 30, 2026
• Last Updated: April 20, 2023

Record last verified: 2023-04

Data Sharing

• IPD Sharing: Will not share

Locations

CH (1)