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Clinical Trial Summary

Smith Magenis Syndrome (SMS) is a complex disorder characterized by severe neurological, psychological and behavioral disorders including sleep-wake rhythm disorders. It is a rare disease with a prevalence of 1/25 000. The sleep disorders observed could be the consequence of a general dysregulation of the circadian system, since these patients show an inversion of the melatonin secretion profile. In SMS, the peak of melatonin is observed at 12 o'clock, whereas it is nocturnal in healthy subjects (3-4 o'clock in the morning). Daylight plays a important role in circadian regulation by inducing an inhibition of melatonin secretion via the suprachiasmatic nuclei of the hypothalamus. This mechanism could be affected in SMS children, explaining the lag of melatonin profile. These sleep-wake disturbances cycle could play a significant role in learning deficits and in the frequency and severity of behavioral abnormalities observed in SMS. In this project, investigators propose to study the mechanisms involved in the sleep-wake cycle disorders observed in Smith Magenis children, in particular by evaluating the quality of the pupillary reflex using a pupillometer. The pupillary reflex is a simple and non-invasive method to test light sensitivity and the photobiological mechanisms involved. In this way, investigators want to evaluate the diurnal profile of the pupillary reflex in children with Smith Magenis syndrome in relation to the diurnal melatonin profile. Investigators will complete this study by determining the chronobiological profile of Smith Magenis patients by measuring different variables: - Diurnal cortisol and amylase profile - 24h body temperature and heart rate profile - Urinary cortisol and 6-sulfatoxymelatonin (major metabolite of melatonin) profiles - Daytime sleepiness profile measured subjectively by questionnaire and objectively via a waking EEG recording. - Actimetry at home - Polysomnography - A neurocognitive and behavioural assessment


Clinical Trial Description

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Study Design


Related Conditions & MeSH terms


NCT number NCT05116904
Study type Interventional
Source Hospices Civils de Lyon
Contact Patricia FRANCO, Pr
Phone 0427856052
Email [email protected]
Status Not yet recruiting
Phase N/A
Start date December 2021
Completion date January 2024

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