Melatonin Levels in Smith Magenis Syndrome (SMS)

Not Applicable

Terminated

Interventions: Device: Enviro-light artificial light box
Dietary Supplement: Melatonin

Brief Summary: 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.

Detailed Description: 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.

Recruitment & Eligibility

Inclusion Criteria

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.

Exclusion Criteria

Arm && Interventions

Group	Intervention	Description
2	Enviro-light artificial light box	Subjects will sit in front of a fluorescent bright light box while completing plasma samples to test for melatonin suppression in blood. This will be completed by both the SMS patient group and the control group of elderly individuals.
1	Melatonin	Subjects will take up to 3 mg of melatonin daily and will complete frequent (every 2-4 weeks) of saliva and/or plasma sampling to test for a change in the timing of the body clock in response to the melatonin.

Primary Outcome Measures

Name	Time	Method
Circadian Phase Marker, as Measured by the Melatonin Levels in Serial Salivary and/or Plasma Samples	every 2-4 weeks throughout the entire study

Secondary Outcome Measures

Name	Time	Method
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