An interventional study of Assessment in Smith-Magenis Syndrome and Autism Spectrum Disorder, sponsored by Hospices Civils de Lyon. Recruiting at 2 sites in France. Open to participants aged 5 Years to 14 Years. Per ClinicalTrials.gov, last updated 2026-10-26.
Sponsored by Hospices Civils de Lyon · Not applicable, Interventional, and Basic science
Autism Spectrum Disorders (ASD) are a neurodevelopmental disorder. Their prevalence is estimated at around 0.4% of the general population worldwide. Their early onset and chronic nature make them a disabling disorder, all the more so as there is a high prevalence of sleep disorders in these populations, estimated at between 50 and 80%, with many complaints of insomnia in particular. These sleep disorders may result from biological, psychological, social, environmental and family factors.
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.
These sleep disorders observed could be the consequence of a general dysregulation of the circadian system, since SMS patients show an inversion of the melatonin secretion profile (with a totally abnormal diurnal peak) and in patients with autism spectrum disorders, an overall reduction in melatonin secretion.
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 and ASD.
In this project, investigators propose to study the mechanisms involved in the sleep-wake cycle disorders observed in Smith Magenis and Autism Spectrum 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 and with Autism Spectrum Disorders in relation to the diurnal melatonin profile.
Investigators will complete this study by determining the chronobiological profile of these patients by measuring different variables:
1,724 studies on the registry are indexed under Autism Spectrum Disorder; 500 are open to participants now.
This study's planned enrollment of 40 is below the median of 52 across 1,368 interventional studies indexed under Autism Spectrum Disorder.
Browse Autism Spectrum Disorder studies →Hospices Civils de Lyon is the lead sponsor of 1,866 studies on the registry; 448 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The criteria were revised on the registry on Oct 26, 2026. See what changed
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Only for SMS patients:
- Dyschromatopsia detected in consultation with a rapid Ishihara test adapted to the child's cognitive level, if necessary supplemented by a test performed by ophthalmologists.
Other: Assessment
Other: Assessment
Pupil reflex and melatonin profile, circadian profile assessment
Measurement of the percentage change between pupil diameter at the end of light exposure and before exposure
This measurement will allow to evaluate the diurnal profile of the pupillary reflex and will be measured by a NeuroLight pupillometer (IDMed). This measurement will be done every 2 hours from 8am to 8pm, for one day
Time frame: One day
Measurement of salivary melatonin levels
This measurement will allow to evaluate the diurnal melatonin profile and will be evaluated using saliva samples. This measurement will be done every 2 hours from 8am to 8pm, for one day
Time frame: One day
Determination of the chronobiological profile : Salivary cortisol levels
Salivary cortisol levels will be evaluated using saliva samples
Time frame: Every 2 hours from 8am to 8pm, for one day
Determination of the chronobiological profile : Amylase levels
Amylase levels will be evaluated using saliva samples
Time frame: Every 2 hours from 8am to 8pm, for one day
Determination of the chronobiological profile : Urinary 6-sulfatoxymelatonin level
Urinary 6-sulfatoxymelatonin level will be evaluated using urinary samples
Time frame: over 24hours
Determination of the chronobiological profile : Urinary cortisol level
Urinary cortisol level will be evaluated using urinary samples
Time frame: over 24hours
Determination of the chronobiological profile : Variations in body temperature in degrees
Body temperature will be measured by ibuttonR placed on the surface of the skin
Time frame: over 24hours
Determination of the chronobiological profile : Assessment of sleepiness by questionnaire (numerical score)
The Karolinska questionnaire will be carried out at the time of salivary sampling and pupil diameter measurement and the score obtained will be compared with the salivary melatonin level.
Time frame: Every 2 hours from 8am to 8pm, for one day
Determination of the chronobiological profile : Assessment of sleepiness by spectral analysis (EEG)
Somnolence will be evaluated by calculating power spectrum in several frequency bands.
Time frame: Every 2 hours from 8am to 8pm, for one day
Determination of the chronobiological profile : Sleep assessment by actimetry
Home activity monitor during an outpatient recording with a watch in order to assess the sleep wake rhythm at home
Time frame: 2 weeks
Determination of the chronobiological profile :Sleep assessment by Polysomnography
Polysomnography during hospitalization in order to assess the structure of sleep
Time frame: 24 hours
Neuropsychological assessment
WISC +/- Vineland
Time frame: One day
To characterise the sleep patterns of SMS patients with a mutation versus a deletion in the RAI gene
To characterise the sleep patterns of SMS patients with a mutation versus a deletion in the RAI gene
Time frame: 2 weeks
Plan to share: No
No publications or documents are linked to this record.
Started Mar 2022 (actual). Primary completion is estimated for Apr 2027, 61 months after the start.
Of 800 non-industry interventional studies with no phase under Autism Spectrum Disorder, half reached primary completion within 25 months of starting (the median), counting those still running; a quarter within 12 and three quarters within 48. This study's planned 61 months is above that.
Counting every sponsor, half of 823 studies reached it within 25 months; a quarter within 12 and three quarters within 47.
Since we started tracking on Sep 25, 2026, the dates moved once, on Oct 26, 2026: primary completion Apr 2026 → Apr 2027 and completion Apr 2026 → Apr 2027.
Earlier changes are on the record history on ClinicalTrials.gov ↗
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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