Trial | NCT03492970  Report issue

Title

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

  • Phase

    N/A

  • Study Type

    Interventional

  • Status

    Completed No Results Posted

  • Study Participants

    10
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
Study Started
Mar 07
2018
Primary Completion
Jan 30
2019
Study Completion
Mar 30
2019
Last Update
Apr 22
2019

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

10 adult patients with SMS Other

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

Criteria 

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
No Results Posted