Melatonin in Adults With SMS (SMS-adults)
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|ClinicalTrials.gov Identifier: NCT03492970|
Recruitment Status : Completed
First Posted : April 10, 2018
Last Update Posted : April 22, 2019
|Condition or disease||Intervention/treatment||Phase|
|Smith Magenis Syndrome||Biological: Hourly dosing of the nychtemeral secretion of melatonin||Not Applicable|
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
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||10 participants|
|Intervention Model:||Single Group Assignment|
|Intervention Model Description:||To specify the evolution of the nycthéméral cycle of the secretion of melatonin in 10 adult subjects carrying a SMS|
|Masking:||None (Open Label)|
|Official Title:||Characterization of Behavioral Disorders and 24 H-melatonin Level in Adults With Smith Magenis Syndrome|
|Actual Study Start Date :||March 7, 2018|
|Actual Primary Completion Date :||January 30, 2019|
|Actual Study Completion Date :||March 30, 2019|
10 adult patients with SMS
Specify the evolution of the nycthemeral cycle of melatonin secretion in adult subjects carrying an SMS Behavioral characterization of adult subjects with SMS Make recommendations on the management of sleep / sleep rhythm disorders and behavior in adult subjects with SMS
Biological: Hourly 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
- 24h melatonin levels [ Time Frame: 24 hours ]Plasmatic melatonin level will be assessed every hour during 24h for each subject
- Analysis of actimetry [ Time Frame: 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 .
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): NCT03492970
|CH Le Vinatier|
|BRON Cedex, Rhône-Alpes, France, 69678|
|Principal Investigator:||POISSON ALICE, PH||CH LE VINATIER|