Melatonin Levels in Sleep-disordered Smith-Magenis Syndrome: a Pilot Study
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 5
- 试验地点
- 2
- 主要终点
- Circadian Phase Marker, as Measured by the Melatonin Levels in Serial Salivary and/or Plasma Samples
研究概览
简要总结
The goal of this pilot project is to determine whether melatonin levels are disordered in patients with Smith-Magenis Syndrome (SMS) and whether melatonin treatment can correct abnormal circadian rhythms in SMS patients. In addition, the study investigates the effects of bright light in an elderly control population that exhibits low melatonin secretion.
详细描述
Participation involves 5 stages for SMS patients. First, Subjects will complete 4 sessions of 25-hour salivary or plasma sampling, with the last sampling occurring in front of a bright light box. Second, subjects will enroll in the melatonin treatment phase, involving a daily dose (up to 3 mg) for up to one year, with frequent (every 2-4 weeks) of 25-hour salivary or plasma sampling. During this stage, the subject and/or caregiver may also be asked to wear an activity wrist monitor, complete a daily sleep diary and behavioral questionnaires. Third, the subject may be asked to complete up to 3 25-hour sampling periods and take a melatonin pill on the same day to test how their body metabolizes the hormone, melatonin. The fourth stage is for subjects who are found to have an abnormal body rhythm. Subjects will complete a 25-hour plasma sampling period under bedrest to test for a hormone, Cortisol. The fifth stage is an optional 12-hour sleep analysis (polysomnography) to test for sleep disorders.
Control participants will complete an abbreviated protocol of the 3 baseline 25-hour sampling periods and 1 involving bright light exposure.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- Single (Participant)
入排标准
- 年龄范围
- 3 Years 至 85 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Control participants:
- •30 individuals: ages 55-85,
- •healthy without significant active medical problems.
- •SMS patients:
- •20 individuals: ages 3-50,
- •with a clinical diagnosis of Smith-Magenis Syndrome by a qualified Medical Geneticist, confirmed by cytogenetic analysis documenting deletion of chromosome band 17p11.2.
排除标准
- •Control participants:
- •A current Axis I psychiatric or substance abuse disorder according to the DSM-IV Manual, abnormal heart, liver or kidney function, diagnoses of neurodegenerative or cerebrovascular disease (Alzheimer's disease, Parkinson's disease, stroke, etc.),
- •cognitive impairment (Mini-Mental State Score < 23) but without a formal diagnosis of dementia,
- •active symptoms of depression (Geriatric Depression Scale: 30 pt. version > 10),
- •current diagnosis of cataracts,
- •macular degeneration or retinopathy based on eye exam by an optometrist or ophthalmologist within the past year.
结局指标
主要结局
Circadian Phase Marker, as Measured by the Melatonin Levels in Serial Salivary and/or Plasma Samples
时间窗: every 2-4 weeks throughout the entire study
次要结局
- Polysomnography Sleep Disorder Assessment(1 optional, 12-hour assessment towards the end of the study)
- Wrist Actigraph Activity Levels as a Secondary Indicator of Circadian Phase(every 2-4 weeks throughout the entire study along with every Circadian Phase Marker assessment)