Investigating sleep disorders in children with Smith Magenis Syndrome and Autism Spectrum Disorders
Chronobiological Characterization of Smith Magenis Syndrome and Autism Spectrum Disorders in Paediatric Age
This study is testing how sleep problems affect children with Smith Magenis Syndrome or Autism Spectrum Disorder to better understand their sleep patterns and issues.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 40 (estimated) |
| Ages | 5 Years to 12 Years |
| Sex | All |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 2 sites (Bron and 1 other locations) |
| Trial ID | NCT05116904 on ClinicalTrials.gov |
What this trial studies
This clinical trial focuses on children aged 5-12 years who have been genetically confirmed to have Smith Magenis Syndrome or neuropsychologically confirmed Autism Spectrum Disorder. The study aims to assess sleep disorders prevalent in these populations, which may stem from a dysregulation of the circadian system. Participants will undergo sleep assessments at a specialized pediatric sleep unit to evaluate their sleep-wake rhythms and related issues. The trial seeks to understand the underlying biological and psychological factors contributing to these sleep disturbances.
Who should consider this trial
Good fit: Ideal candidates are children aged 5-12 years with genetically confirmed Smith Magenis Syndrome or Autism Spectrum Disorder without additional genetic pathologies.
Not a fit: Patients with associated ophthalmological disorders or those experiencing significant pain may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved management of sleep disorders in children with Smith Magenis Syndrome and Autism Spectrum Disorders.
How similar studies have performed: While there is limited data on similar studies specifically targeting Smith Magenis Syndrome, research on sleep disorders in Autism Spectrum Disorders has shown varying degrees of success.
Eligibility criteria
Show full inclusion / exclusion 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) and children with neuropsychologically confirmed autism spectrum disorder, with no genetic pathology found. * Aged 5-12 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. * 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.
Where this trial is running
Bron and 1 other locations
- Service Épilepsie-Sommeil-Explorations Fonctionnelles Neurologiques Pédiatriques Hôpital Femme-Mère-Enfant HCL — Bron, France (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, France (Recruiting)
Study contacts
- Principal investigator: Patricia FRANCO, PhD — Service Épilepsie-Sommeil-Explorations Fonctionnelles Neurologiques Pédiatriques, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon
- Study coordinator: Patricia FRANCO, PhD
- Email: patricia.franco@chu-lyon.fr
- Phone: 0427856052
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.