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

Study Overview
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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

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

Conditions
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Smith Magenis Syndrome

Participation Criteria
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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

Ages Eligible for Study
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Minimum Age: 6 Years
Maximum Age: 50 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Circadian melatonin rhythm as measured by plasma melatonin |  | 36-hour blood sampling on week 1 | 
| Circadian melatonin rhythm as measured by plasma melatonin |  | 36-hour blood sampling on week 2 | 
| Circadian melatonin rhythm as measured by plasma melatonin |  | 36-hour blood sampling on week 4 | 
| Circadian cortisol rhythms as measured by plasma cortisol |  | 36-hour blood sampling at week 1 | 
| Circadian cortisol rhythms as measured by plasma cortisol |  | 36-hour blood sampling at week 2 | 
| Circadian cortisol rhythms as measured by plasma cortisol |  | 36-hour blood sampling at week 4 | 
| Circadian analytes rhythms as measured in plasma |  | 36-hour blood sampling at week 1 | 
| Circadian analytes rhythms as measured in plasma |  | 36-hour blood sampling at week 2 | 
| Circadian analytes rhythms as measured in plasma |  | 36-hour blood sampling at week 4 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genetic testing to confirm SMS diagnosis |  | blood sampling at screening visit | 
| Nighttime and daytime sleep as measured by actigraphy |  | Four week evaluation period | 
| QOL Scale |  | Four week evaluation period | 
| Melatonin Light Response Test (MLRT) |  | After four week evaluation period | 
| Behavioral Scale |  | Four week evaluation period | 
| Salivary melatonin and cortisol |  | Four week evaluation period |