NCT03492970

Melatonin in Adults With SMS

Characterization of Behavioral Disorders and 24 H-melatonin Level in Adults With Smith Magenis Syndrome

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 10 (actual)
• Sponsor: Hôpital le Vinatier · Academic / Other
• Sex: All
• Age: 18 Years – 65 Years
• Healthy volunteers: Not accepted

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

Conditions

• Smith Magenis Syndrome

Interventions

Type	Name	Description
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

Timeline

• Start date: 2018-03-07
• Primary completion: 2019-01-30
• Completion: 2019-03-30
• First posted: 2018-04-10
• Last updated: 2019-04-22

Locations

1 site across 1 country: France