Clinical trial NCT02180451: Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)
Official title: Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Smith Magenis Syndrome
Lead sponsor: Vanda Pharmaceuticals
Sponsor class: INDUSTRY
First posted: 2014-07-02
Enrollment: 8
Sex: ALL
Minimum age (years): 6
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Smith-Magenis patients

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


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

Primary outcomes:
measure: Circadian melatonin rhythm as measured by plasma melatonin
timeFrame: 36-hour blood sampling on week 1
measure: Circadian melatonin rhythm as measured by plasma melatonin
timeFrame: 36-hour blood sampling on week 2
measure: Circadian melatonin rhythm as measured by plasma melatonin
timeFrame: 36-hour blood sampling on week 4
measure: Circadian cortisol rhythms as measured by plasma cortisol
timeFrame: 36-hour blood sampling at week 1
measure: Circadian cortisol rhythms as measured by plasma cortisol
timeFrame: 36-hour blood sampling at week 2
measure: Circadian cortisol rhythms as measured by plasma cortisol
timeFrame: 36-hour blood sampling at week 4
measure: Circadian analytes rhythms as measured in plasma
timeFrame: 36-hour blood sampling at week 1
measure: Circadian analytes rhythms as measured in plasma
timeFrame: 36-hour blood sampling at week 2
measure: Circadian analytes rhythms as measured in plasma
timeFrame: 36-hour blood sampling at week 4
Secondary outcomes:
measure: Genetic testing to confirm SMS diagnosis
timeFrame: blood sampling at screening visit
measure: Nighttime and daytime sleep as measured by actigraphy
timeFrame: Four week evaluation period
measure: QOL Scale
timeFrame: Four week evaluation period
measure: Melatonin Light Response Test (MLRT)
timeFrame: After four week evaluation period
measure: Behavioral Scale
timeFrame: Four week evaluation period
measure: Salivary melatonin and cortisol
timeFrame: Four week evaluation period
Other outcomes:
Locations:
city: Baltimore
country: United States
state: Maryland
Study officials:
References: