Melatonin Levels in Smith Magenis Syndrome (SMS)

November 8, 2019 updated by: Oregon Health and Science University

Melatonin Levels in Sleep-disordered Smith-Magenis Syndrome: a Pilot Study

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.

Study Overview

Status

Terminated

Conditions

Intervention / Treatment

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.

Study Type

Interventional

Enrollment (Actual)

5

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Oregon
      • Portland, Oregon, United States, 97239
        • Sleep and Mood Disorders Lab, Oregon Health & Science University

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years to 85 years (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: DIAGNOSTIC
  • Allocation: NON_RANDOMIZED
  • Interventional Model: PARALLEL
  • Masking: SINGLE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
ACTIVE_COMPARATOR: 2
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.
Device: Enviro-light artificial light box
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.
Other Names:
  • bright light treatment
EXPERIMENTAL: 1
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.
Dietary supplement: Melatonin
up to 3 mg, daily, for up to 1 year

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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
every 2-4 weeks throughout the entire study

Secondary Outcome Measures

Outcome Measure
Time Frame
Polysomnography Sleep Disorder Assessment
Time Frame: 1 optional, 12-hour assessment towards the end of the study
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
every 2-4 weeks throughout the entire study along with every Circadian Phase Marker assessment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Oregon Health and Science University

Investigators

  • Principal Investigator: Eilis Boudreau, MD, Oregon Health and Science University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 1998

Primary Completion (ACTUAL)

March 1, 2009

Study Completion (ACTUAL)

May 1, 2009

Study Registration Dates

First Submitted

May 30, 2008

First Submitted That Met QC Criteria

June 3, 2008

First Posted (ESTIMATE)

June 5, 2008

Study Record Updates

Last Update Posted (ACTUAL)

November 27, 2019

Last Update Submitted That Met QC Criteria

November 8, 2019

Last Verified

November 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • eIRB 0668
  • n/a unfunded

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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