Characterization of Behavioral Disorders and 24 H-melatonin Level in Adults With Smith Magenis Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 10
- 试验地点
- 2
- 主要终点
- 24h melatonin levels
研究概览
简要总结
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
详细描述
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
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 65 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient with Smith Magenis Syndrome aged 18 years or older
- •subject or guardian having signed the consent
排除标准
- •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
研究组 & 干预措施
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
干预措施: Hourly dosing of the nychtemeral secretion of melatonin (Biological)
结局指标
主要结局
24h melatonin levels
时间窗: 24 hours
Plasmatic melatonin level will be assessed every hour during 24h for each subject
次要结局
- Analysis of actimetry(15 days)