Melatonin Levels in Smith Magenis Syndrome (SMS)

NCT00691574 | Terminated Results DMC

• 2 other identifiers: eIRB 0668n/a unfunded
• Study Type: interventional
• Target: 5
• Locations: 1 country
• Sites: 1

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.

Conditions

Chromosome Disorders

Keywords

Smith-Magenis Syndrome; melatonin; circadian rhythm; sleep

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• 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

Study Arms (2)

2

ACTIVE COMPARATOR

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

1

EXPERIMENTAL

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

Interventions

Melatonin DIETARY_SUPPLEMENT

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

1

Enviro-light artificial light box DEVICE

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.

Also known as: bright light treatment

2

Eligibility Criteria

• Age: 3 Years - 85 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Control participants:
• individuals: ages 55-85,
• healthy without significant active medical problems.
• SMS patients:
• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Oregon Health and Science University: lead

Study Sites (1)

Sleep and Mood Disorders Lab, Oregon Health & Science University

Portland, Oregon, 97239, United States

Location

Related 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. doi: 10.1016/j.tem.2006.07.007. Epub 2006 Aug 4.

  PMID: 16890450 BACKGROUND

• 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. doi: 10.1136/jmg.37.6.428.

  PMID: 10851253 BACKGROUND

MeSH Terms

Conditions

Chromosome Disorders; Smith-Magenis Syndrome

Interventions

Melatonin

Condition Hierarchy (Ancestors)

Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Chronobiology Disorders; Nervous System Diseases; Abnormalities, Multiple

Intervention Hierarchy (Ancestors)

Tryptamines; Indoles; Heterocyclic Compounds, 2-Ring; Heterocyclic Compounds, Fused-Ring; Heterocyclic Compounds; Hormones; Hormones, Hormone Substitutes, and Hormone Antagonists

Limitations and Caveats

Analyses were not completed because, a unique provision in the American Recovery and Reinvestment Act (ARRA) of 2009 funding source unexpectedly prevented approval of a second year no-cost-extension in which completion of analyses were planned.

Results Point of Contact

• Title: Alfred Lewy, MD, PhD
• Organization: Oregon Health & Science University

lewy@ohsu.edu

(503) 494-7746

Study Officials

• Eilis Boudreau, MD

  Oregon Health and Science University

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: SINGLE
• Who Masked: PARTICIPANT
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 30, 2008
• First Posted: June 5, 2008
• Study Start: September 1, 1998
• Primary Completion: March 1, 2009
• Study Completion: May 1, 2009
• Last Updated: November 27, 2019
• Results First Posted: November 27, 2019

Record last verified: 2019-11

Locations

US (1)