Smith Magenis Syndrome
Conditions
Brief summary
Sleep-Wake and behavioral disorders in Smith Magenis Syndrome (SMS) are strongly linked to an inversion of the nychtemeral secretion of melatonin. This inversion have been described in children with SMS. However its evolution during adulthood remains unknown. The aim of this study is to assess 24hours melatonin levels in 10 adults with SMS in order to optimize medication in adults with SMS
Detailed description
SMS is one of the rare syndromes in which the inversion of melatonin secretion is regular, which is an exceptional situation for the study of the influence of genetic factors on the regulation of sleep / wake rhythm. Recently, point mutations of the RAI1 gene (Retinoic Acid Induced 1) have been identified in individuals with the clinical features of SMS with a reversal of the secretion rate of melatonin ,highlighting the role of RAI1 in SMS sleep disorders. Daytime secretion of melatonin is associated with significant drowsiness and plays a major role in diurnal behavior disorders, especially in younger people. Conversely, the absence of nocturnal melatonin is a causal factor in the shortening and fragmentation of nocturnal sleep . Basically, little is known about the mechanisms that explain the inversion of the secretion rate of melatonin in SMS. These aspects, and in particular the nycthemeral reversal of the melatonin cycle, have been described in a population of children and we do not know how these disturbances evolve in adulthood
Interventions
BIOLOGICALHourly dosing of the nychtemeral secretion of melatonin
Hourly dosing of the nychtemeral secretion of melatonin links and with sleep disorders and behavior of adult patients with SMS
Sponsors
Hospices Civils de Lyon
Hôpital le Vinatier
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Intervention model description
To specify the evolution of the nycthéméral cycle of the secretion of melatonin in 10 adult subjects carrying a SMS
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* Patient with Smith Magenis Syndrome aged 18 years or older * subject or guardian having signed the consent
Exclusion criteria
* Pregnant women * Minor subject * Diagnosis of Smith Magenis syndrome not certain * Taking benzodiazepines or related substances * Taking betablockers * Major behavioral disorders versus indicating participation in this study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 24h melatonin levels | 24 hours | Plasmatic melatonin level will be assessed every hour during 24h for each subject |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Analysis of actimetry | 15 days | At the end of the Visit 1 interview, an actimeter will be given to the patient to be worn on the previous two weeks before Visit 2. This will allow the evaluation of the sleep / wake rhythm in the usual life situation. The actimeter will be reported by the patient during the second visit . |
Countries
France
Outcome results
None listed