Overview

This trial is active, not recruiting.

Condition smith magenis syndrome
Sponsor Vanda Pharmaceuticals
Start date June 2014
End date January 2017
Trial size 8 participants
Trial identifier NCT02180451, VP-1401

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

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Observational model case-only
Time perspective prospective

Primary Outcomes

Measure
Circadian melatonin rhythm as measured by plasma melatonin
time frame: 36-hour blood sampling on week 1
Circadian melatonin rhythm as measured by plasma melatonin
time frame: 36-hour blood sampling on week 2
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 1
Circadian cortisol rhythms as measured by plasma cortisol
time frame: 36-hour blood sampling at week 2
Circadian cortisol rhythms as measured by plasma cortisol
time frame: 36-hour blood sampling at week 4
Circadian analytes rhythms as measured in plasma
time frame: 36-hour blood sampling at week 1
Circadian analytes rhythms as measured in plasma
time frame: 36-hour blood sampling at week 2
Circadian analytes rhythms as measured in plasma
time frame: 36-hour blood sampling at week 4

Secondary Outcomes

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

Eligibility Criteria

Male or female participants from 6 years up to 50 years old.

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

Additional Information

Official title Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)
Trial information was received from ClinicalTrials.gov and was last updated in March 2016.
Information provided to ClinicalTrials.gov by Vanda Pharmaceuticals.