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Clinical Trial 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


Clinical Trial 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 ;


Study Design


Related Conditions & MeSH terms


NCT number NCT03492970
Study type Interventional
Source Hôpital le Vinatier
Contact
Status Completed
Phase N/A
Start date March 7, 2018
Completion date March 30, 2019

See also
  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