Smith-Magenis SyndromeSMS/TSANCT05116904
Smith Magenis Syndrome and Autism Spectrum Disorders
A study testing Assessment in people with Smith-Magenis Syndrome and Autism Spectrum Disorder, run by Hospices Civils de Lyon at 2 sites in France.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 5 to 14 years
- Conditions the study is for
- Smith-Magenis Syndrome, Autism Spectrum Disorder
- What is being tested?
- Assessment
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 2 sitesFrance
- Study dates
- 30 Mar 2022to Apr 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 14 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Genetically confirmed Smith Magenis syndrome (microdeletion of the short arm of chromosome 17 or mutation of the RAI1 gene; obtained by FISH, CGH-array or molecular biology) and children with neuropsychologically confirmed autism spectrum disorder, with no genetic pathology found.
- Aged 5-14 years
- Consent form signed by the parent(s)
- Requiring a sleep assessment in the Hopital Femme Mère Enfant paediatric sleep unit of Pr Franco
- Affiliation to a social security system.
Who cannot join
- Associated ophthalmological disorders that do not allow the photomotor reflex to be studied: optic neuritis, glaucoma and retinitis pigmentosa.
- Algic child (risk of measurement bias: when a patient is in pain his pupils dilate and we observe a greater amplitude in the photomotor reflex), defined by a score on the FPS-R Face Scale >4/10.
- 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.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites, 2 recruiting
- Recruiting
Service Épilepsie-Sommeil-Explorations Fonctionnelles Neurologiques Pédiatriques Hôpital Femme-Mère-Enfant HCL
Bron, 69677
Patricia FRANCO, Pr, 0427856052 ext. +33, patricia.franco@chu-lyon.fr
Patricia FRANCO, Pr
- Recruiting
GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR-Psy Q19 Team (Centre National de la Recherche Scientifique & Lyon 1 Claude Bernard University)
Bron, 69678
Pr Caroline Demily Dr Alice POISSON, caroline.DEMILY@ch-le-vinatier, alice.POISSON@-le-vinatier.fr
About this study
Official title: Chronobiological Characterization of Smith Magenis Syndrome and Autism Spectrum Disorders in Paediatric Age
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.
Read more
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:
- 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
- Conditions
- Smith-Magenis Syndrome, Autism Spectrum Disorder
- Being tested
- Assessment
- Keywords
- Sleep disorders, Chronobiology, Smith Magenis Syndrome, Paediatrics, Pupillary reflex, Circadian rhythm, Melatonin, Autism Spectrum Disorder
- Medical subject headings
- Smith-Magenis Syndrome, Autism Spectrum Disorder, Sleep Wake Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AssessmentOther
Pupil reflex and melatonin profile, circadian profile assessment
| Study group | Role | What they receive |
|---|---|---|
| Children with Smith Magenis Syndrome | Other | Not described Receives: Other: Assessment |
| Children with Autism Spectrum Disorders | Other | Not described Receives: Other: Assessment |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: One day
Secondary outcomes (11)
Determination of the chronobiological profile : Salivary cortisol levels
Salivary cortisol levels will be evaluated using saliva samples
Measured: 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
Measured: 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
Measured: over 24hours
Determination of the chronobiological profile : Urinary cortisol level
Urinary cortisol level will be evaluated using urinary samples
Measured: 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
Measured: 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.
Measured: 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.
Measured: 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
Measured: 2 weeks
Determination of the chronobiological profile :Sleep assessment by Polysomnography
Polysomnography during hospitalization in order to assess the structure of sleep
Measured: 24 hours
Neuropsychological assessment
WISC +/- Vineland
Measured: 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
Measured: 2 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Nov 2021
- Study start30 Mar 2022
- Primary completionApr 2027 (estimated)
- Study completionApr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Smith-Magenis SyndromeStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Patricia FRANCO, PhD, Principal investigator, Service Épilepsie-Sommeil-Explorations Fonctionnelles Neurologiques Pédiatriques, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05116904
- Sponsor's protocol ID
- 69HCL20_0682
- Acronym
- SMS/TSA
- Status last verified
- Oct 2026
- First submitted
- 21 Oct 2021
- Last updated
- 26 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Chronobiological Characterization of Smith Magenis Syndrome and Autism Spectrum Disorders in Paediatric Age
- ClinicalTrials.gov ID
- NCT05116904
- Acronym / sponsor ID
- SMS/TSA / 69HCL20_0682
- Conditions
- Smith-Magenis Syndrome, Autism Spectrum Disorder
- Keywords
- Sleep disorders, Chronobiology, Smith Magenis Syndrome, Paediatrics, Pupillary reflex, Circadian rhythm, Melatonin, Autism Spectrum Disorder
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 30 Mar 2022 (actual)
- Primary completion
- Apr 2027 (estimated)
- Study completion
- Apr 2027 (estimated)
- First posted
- 11 Nov 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Children with Smith Magenis Syndrome | Other | Other: Assessment |
| Children with Autism Spectrum Disorders | Other | Other: Assessment |
Who may qualify
- Ages
- 5 to 14 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- Genetically confirmed Smith Magenis syndrome (microdeletion of the short arm of chromosome 17 or mutation of the RAI1 gene; obtained by FISH, CGH-array or molecular biology) and children with neuropsychologically confirmed autism spectrum disorder, with no genetic pathology found.
- Aged 5-14 years
- Consent form signed by the parent(s)
- Requiring a sleep assessment in the Hopital Femme Mère Enfant paediatric sleep unit of Pr Franco
- Affiliation to a social security system.
Key exclusion criteria (4 listed)
- Associated ophthalmological disorders that do not allow the photomotor reflex to be studied: optic neuritis, glaucoma and retinitis pigmentosa.
- Algic child (risk of measurement bias: when a patient is in pain his pupils dilate and we observe a greater amplitude in the photomotor reflex), defined by a score on the FPS-R Face Scale >4/10.
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| AssessmentPupil reflex and melatonin profile, circadian profile assessment | Other | Children with Autism Spectrum Disorders, Children with Smith Magenis Syndrome |
Primary outcome
Measurement of the percentage change between pupil diameter at the end of light exposure and before exposure
Time frame: One day
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
Measurement of salivary melatonin levels
Time frame: One day
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
11 secondary outcomes
Determination of the chronobiological profile : Salivary cortisol levels
Time frame: Every 2 hours from 8am to 8pm, for one day
Determination of the chronobiological profile : Amylase levels
Time frame: Every 2 hours from 8am to 8pm, for one day
Determination of the chronobiological profile : Urinary 6-sulfatoxymelatonin level
Time frame: over 24hours
Determination of the chronobiological profile : Urinary cortisol level
Time frame: over 24hours
Determination of the chronobiological profile : Variations in body temperature in degrees
Time frame: over 24hours
Determination of the chronobiological profile : Assessment of sleepiness by questionnaire (numerical score)
Time frame: Every 2 hours from 8am to 8pm, for one day
Determination of the chronobiological profile : Assessment of sleepiness by spectral analysis (EEG)
Time frame: Every 2 hours from 8am to 8pm, for one day
Determination of the chronobiological profile : Sleep assessment by actimetry
Time frame: 2 weeks
Determination of the chronobiological profile :Sleep assessment by Polysomnography
Time frame: 24 hours
Neuropsychological assessment
Time frame: One day
To characterise the sleep patterns of SMS patients with a mutation versus a deletion in the RAI gene
Time frame: 2 weeks
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2026.
- Individual participant dataSharing planned: No
Related trials for Smith-Magenis Syndrome
Enrolling by invitation
Parent and Infant Inter(X)Action Intervention (PIXI)
Fragile X Syndrome, Angelman Syndrome
RecruitingObservational study
Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
RAI1 Gene 17P11.2 Deletion+Duplication
RecruitingObservational study
Development of Clinical Database of Individuals With Smith-Magenis Syndrome and Sleep Disturbances
Sleep Disturbances in Smith-Magenis Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Patricia FRANCO, PhD principal investigator
Service Épilepsie-Sommeil-Explorations Fonctionnelles Neurologiques Pédiatriques, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Assessment in people with Smith-Magenis Syndrome and Autism Spectrum Disorder, run by Hospices Civils de Lyon at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Patricia FRANCO, PhD (0427856052 ext. +33, patricia.franco@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Measurement of the percentage change between pupil diameter at the end of light exposure and before exposure (time frame: One day). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Oct 2026.