Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

8 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-06-30

Study Completion Date

2017-01-31

Brief Summary

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The purpose of this study is to characterize the circadian rhythm disruption experienced by patients as determined by plasma melatonin, cortisol, and other circadian analytes

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Detailed Description

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Conditions

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Smith Magenis Syndrome

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* A confirmed clinical diagnosis of SMS with a prior positive genetic test result as indicated by a parent/guardian
* Informed consent from the patient or the legal guardian/assent provided by the individual with SMS, when possible
* Male or female between the ages of 6-50 years of age
* History of sleep disturbances
* Willing and able to comply with study requirements and restrictions

Exclusion Criteria

* Failure to confirm diagnosis of SMS by molecular cytogenetic methods and/or DNA-based mutation analysis of the RAI1 gene
* Totally blind with no light perception
* Institutionalized or living in an assisted living facility
* Unwilling or unable to follow medication restrictions (medications that affect sleep or melatonin secretion) or unwilling or unable to sufficiently wash-out from use of a restricted medication
* Any medical condition, as determined by the clinical investigator that would make it unsafe for blood draws (e.g., anemia, blood clotting disorders, anxiety, etc.)
* Any other sound medical reason as determined by the clinical investigator

Minimum Eligible Age

6 Years

Maximum Eligible Age

50 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No