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

• Conditions: Smith Magenis Syndrome

• Registration Number: NCT02180451
• Lead Sponsor: Vanda Pharmaceuticals

Brief Summary

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

Detailed Description

Not available

Study Timeline

• Study Start: 2014-06
• Study First Submitted: 2014-06-09
• Study First Submitted QC: 2014-06-30
• Study First Posted: 2014-07-02
• Status Verified: 2016-03
• Last Update Submitted: 2016-03-24
• Last Update Posted: 2016-03-25
• Primary Completion: 2017-01
• Study Completion: 2017-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 8

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 4
Circadian analytes rhythms as measured in plasma	36-hour blood sampling at week 4

Secondary Outcome Measures

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