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Smith Magenis Syndrome Study (SMS)

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ClinicalTrials.gov Identifier: NCT05116904
Recruitment Status : Recruiting
First Posted : November 11, 2021
Last Update Posted : October 25, 2022
Sponsor:
Information provided by (Responsible Party):
Hospices Civils de Lyon

Study Description
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Brief 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

Condition or disease Intervention/treatment Phase
Smith-Magenis Syndrome Other: Assessment Not Applicable

Study Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 20 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Chronobiological Characterization of Smith Magenis Syndrome in Paediatric Age
Actual Study Start Date : March 30, 2022
Estimated Primary Completion Date : April 2024
Estimated Study Completion Date : April 2024

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Arms and Interventions
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Arm Intervention/treatment
Children with Smith Magenis Syndrome Other: Assessment
Pupil reflex and melatonin profile, circadian profile assessment


Outcome Measures
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Primary Outcome Measures :
  1. 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


  2. 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



Secondary Outcome Measures :
  1. Determination of the chronobiological profile : Salivary cortisol levels [ Time Frame: Every 2 hours from 8am to 8pm, for one day ]
    Salivary cortisol levels will be evaluated using saliva samples

  2. Determination of the chronobiological profile : Amylase levels [ Time Frame: Every 2 hours from 8am to 8pm, for one day ]
    Amylase levels will be evaluated using saliva samples

  3. Determination of the chronobiological profile : Urinary 6-sulfatoxymelatonin level [ Time Frame: over 24hours ]
    Urinary 6-sulfatoxymelatonin level will be evaluated using urinary samples

  4. Determination of the chronobiological profile : Urinary cortisol level [ Time Frame: over 24hours ]
    Urinary cortisol level will be evaluated using urinary samples

  5. Determination of the chronobiological profile : Variations in body temperature in degrees [ Time Frame: over 24hours ]
    Body temperature will be measured by ibuttonR placed on the surface of the skin

  6. Determination of the chronobiological profile : Assessment of sleepiness by questionnaire (numerical score) [ Time Frame: Every 2 hours from 8am to 8pm, for one day ]
    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.

  7. Determination of the chronobiological profile : Assessment of sleepiness by spectral analysis (EEG) [ Time Frame: Every 2 hours from 8am to 8pm, for one day ]
    Somnolence will be evaluated by calculating power spectrum in several frequency bands.

  8. Determination of the chronobiological profile : Sleep assessment by actimetry [ Time Frame: 2 weeks ]
    Home activity monitor during an outpatient recording with a watch in order to assess the sleep wake rhythm at home

  9. Determination of the chronobiological profile :Sleep assessment by Polysomnography [ Time Frame: 24 hours ]
    Polysomnography during hospitalization in order to assess the structure of sleep

  10. Neuropsychological assessment [ Time Frame: One day ]
    WISC +/- Vineland


Eligibility Criteria
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Ages Eligible for Study:   7 Years to 12 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • 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)
  • Aged 7-12 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.

Exclusion Criteria:

  • Associated ophthalmological disorders that do not allow the photomotor reflex to be studied: optic neuritis, glaucoma and retinitis pigmentosa.
  • 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.
  • 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.
Contacts and Locations
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Top of Page Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05116904


Contacts
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Contact: Patricia FRANCO, Pr 0427856052 ext +33 patricia.franco@chu-lyon.fr

Locations
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France
Service Épilepsie-Sommeil-Explorations Fonctionnelles Neurologiques Pédiatriques Hôpital Femme-Mère-Enfant HCL Recruiting
Bron, France, 69677
Contact: Patricia FRANCO, Pr    0427856052 ext +33    patricia.franco@chu-lyon.fr   
Principal Investigator: Patricia FRANCO, Pr         
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) Recruiting
Bron, France, 69678
Contact: Pr Caroline Demily Dr Alice POISSON    caroline.DEMILY@ch-le-vinatier    alice.POISSON@-le-vinatier.fr   
Sponsors and Collaborators
Hospices Civils de Lyon
More Information
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Responsible Party: Hospices Civils de Lyon
ClinicalTrials.gov Identifier: NCT05116904    
Other Study ID Numbers: 69HCL20_0682
First Posted: November 11, 2021    Key Record Dates
Last Update Posted: October 25, 2022
Last Verified: October 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Hospices Civils de Lyon:
Sleep disorders
Chronobiology
Smith Magenis Syndrome
Paediatrics
 Pupillary reflex
Circadian rhythm
Melatonin
Additional relevant MeSH terms:
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Smith-Magenis Syndrome
Syndrome
Disease
Pathologic Processes
Chronobiology Disorders
 Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn