Melatonin Levels in Smith Magenis Syndrome (SMS)

Oregon Health and Science University5 enrolled

Overview

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.

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.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

SINGLE

Enrollment

Conditions

Chromosome Disorders

Interventions

MelatoninDIETARY_SUPPLEMENT

up to 3 mg, daily, for up to 1 year

Enviro-light artificial light boxDEVICE

Subjects will sit in front of an artificial, fluorescent light box (10,000 lux) while completing 25-hours of hourly plasma samples. The light lux level will be well below that identified as safe by the FDA.

Eligibility

Sex: ALLMin age: 3 YearsMax age: 85 YearsHealthy volunteers:

Medical Language ↔ Plain English

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: * 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.

Locations (1)

Sleep and Mood Disorders Lab, Oregon Health & Science University

Portland, Oregon, United States

Outcomes

Primary Outcomes

Circadian Phase Marker, as Measured by the Melatonin Levels in Serial Salivary and/or Plasma Samples

Time frame: every 2-4 weeks throughout the entire study

Secondary Outcomes

Polysomnography Sleep Disorder Assessment

Time frame: 1 optional, 12-hour assessment towards the end of the study

Wrist Actigraph Activity Levels as a Secondary Indicator of Circadian Phase

Time frame: every 2-4 weeks throughout the entire study along with every Circadian Phase Marker assessment

Data from ClinicalTrials.gov

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