Smith Magenis Syndrome Clinical Trial
Official title:
Characterization of Behavioral Disorders and 24 H-melatonin Level in Adults With Smith Magenis Syndrome
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
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
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| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Enrolling by invitation |
NCT03836300 -
Parent and Infant Inter(X)Action Intervention (PIXI)
|
N/A | |
| Active, not recruiting |
NCT02180451 -
Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)
|
N/A |