Melatonin Levels in Smith Magenis Syndrome (SMS)

Chromosome Disorders Clinical Trial

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT00691574
• Other study ID #: eIRB 0668
• Secondary ID: n/a unfunded
• Status: Terminated
• Phase: N/A
• Start date: September 1998
• Est. completion date: May 2009

Study information

• Verified date: November 2019
• Source: Oregon Health and Science University
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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 information / eligibility

• Status: Terminated
• Enrollment: 5
• Est. completion date: May 2009
• Est. primary completion date: March 2009
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 3 Years to 85 Years

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:

• 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.

Related Conditions & MeSH terms

• Chromosome Aberrations
• Chromosome Disorders
• Smith-Magenis Syndrome

Intervention

Dietary Supplement:
• Melatonin
up to 3 mg, daily, for up to 1 year

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.

Locations

Country	Name	City	State
United States	Sleep and Mood Disorders Lab, Oregon Health & Science University	Portland	Oregon

Sponsors (1)

Lead Sponsor	Collaborator
Oregon Health and Science University

Country where clinical trial is conducted

United States, 

References & Publications (2)

De Leersnyder H. Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment. Trends Endocrinol Metab. 2006 Sep;17(7):291-8. Epub 2006 Aug 4. Review. — View Citation

Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet. 2000 Jun;37(6):428-33. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Polysomnography Sleep Disorder Assessment		1 optional, 12-hour assessment towards the end of the study
Secondary	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