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

Vanda Pharmaceuticals0 sites8 target enrollmentJune 2014

ConditionsSmith Magenis Syndrome

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: Smith Magenis Syndrome
Sponsor: Vanda Pharmaceuticals
Enrollment: 8
Primary Endpoint: Circadian analytes rhythms as measured in plasma
Last Updated: 10 years ago

Overview Investigators Eligibility Criteria Outcomes Similar Trials

Overview

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

Registry

clinicaltrials.gov

Start Date

June 2014

End Date

January 2017

Last Updated

10 years ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Vanda Pharmaceuticals

Responsible Party

Sponsor

Eligibility Criteria

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

Outcomes

Primary Outcomes

Circadian analytes rhythms as measured in plasma

Time Frame: 36-hour blood sampling at week 4

Circadian melatonin rhythm as measured by plasma melatonin

Time Frame: 36-hour blood sampling on week 4

Circadian cortisol rhythms as measured by plasma cortisol

Time Frame: 36-hour blood sampling at week 4

Secondary Outcomes

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)
Behavioral Scale(Four week evaluation period)
QOL Scale(Four week evaluation period)
Salivary melatonin and cortisol(Four week evaluation period)