International Swiss Primary Hypersomnolence and Narcolepsy Cohort Study

Launched by INSEL GRUPPE AG, UNIVERSITY HOSPITAL BERN · Mar 31, 2020

Keywords

ClinConnect Summary

The International Swiss Primary Hypersomnolence and Narcolepsy Cohort Study (SPHYNCS) is a research project aimed at understanding conditions like narcolepsy and idiopathic hypersomnia, which cause excessive daytime sleepiness. The study will look at how these conditions develop over time and explore potential biological markers that could help in diagnosing these disorders. Researchers are currently looking for participants aged between 10 and 71 who experience daily excessive sleepiness or hypersomnia for at least a month, as well as healthy individuals who can serve as controls.

If you choose to participate, you'll undergo a series of assessments, including tests that measure your brain activity during sleep. This study is important because it aims to improve our understanding of sleep disorders and potentially lead to better treatments in the future. It's worth noting that certain medical conditions, like untreated sleep apnea or other serious health issues, may disqualify individuals from participating. If you or a family member are interested, it could be a chance to contribute to valuable research in this field.

Gender

ALL

Eligibility criteria

• 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