Narcolepsy with or without cataplexy
Conditions
Interventions
None listed
Sponsors
Stichting Epilepsie Instellingen Nederland (SEIN)
Eligibility
Age
16 Years to 99 Years
Inclusion criteria
Inclusion criteria: All participants: - Age 16-70 years - Ability and consent to undergo electrophysiological routine assessment - Ability to give informed consent Patients: - Subjective complaints of excessive daytime sleepiness (EDS) and/or hypersomnolence (H) as defined in the protocol - EDS and/or H present daily or almost daily for at least 1 month prior to the consultation Healthy Controls: - Proportionally age and gender matched healthy subjects
Exclusion criteria
Exclusion criteria: All participants: - Chronic infectious diseases (such as Hepatitis B/C, HIV) - Chronic use of antibiotics - Recent use (over 8 weeks) of immune-modulating drugs Patients: - The following disorders/conditions that on clinical grounds are considered to be the cause of EDS/H: -- Other sleep disorders -- Other neurological disorders -- (Auto-)immune and systemic disorders -- Malignancy (except: Status in Remission for over 10 years) -- Instable psychiatric disorder -- Active infectious disease at screening -- Permanent medications/drugs - Sleep disordered breathing (SDB): Presence of clinically significant and untreated obstructive (OSA) or central sleep apnea (CSA) as determined by the investigator or documented previously; or documentation of one of the following: -- Apnea index (AI) over10 if on OSA treatment or untreated; or -- Clinically significant hypoventilation; or -- Noncompliance with primary OSA/PAP therapy in case of clinically significant OSA -- except if NTI has been diagnosed including decreased or missing CSF hypocretin Healthy Controls: - Subjective complaints of EDS and/or H as defined in the protocol - Epworth Sleepines Scale (ESS) over 10 - Polysomnography (PSG) with apnea index (AI) over10/h and/or periodic leg movement series (PLMS) Index over 30/h - SDB: Presence of clinically significant and untreated OSA or central sleep apnea (CSA) as determined by the investigator or documented previously; or documentation of one of the following: -- Apnea index (AI) over 10 if on OSA treatment or untreated; or -- Clinically significant hypoventilation; or -- Noncompliance with primary OSA/PAP therapy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary endpoints are clinical: the proportion of subjects with diagnosis of NT1 or other CDH diagnoses at follow up. Results from this study are expected to substantially improve (and revise) diagnostic criteria for NBL, which may result in identification of new treatment targets/strategies. | — |
Secondary
| Measure | Time frame |
|---|---|
| The secondary endpoints are biological determinants and biomarkers: the proportion of patients with autoreactive T-cell clones in NT1 and in some NBL subjects but not in controls, and the intestinal microbiome of NT1 and NBL in comparison to controls. The tertiary endpoints are Electrophysiological biomarkers and questionnaire outcomes for NT1 and NBL in comparison to controls. | — |
Countries
Germany, Italy, Netherlands, Norway, Switzerland
Contacts
Public ContactD. Bijlenga
Stichting Epilepsie Instellingen Nederland (SEIN)
Outcome results
None listed