Smith Magenis Syndrome
Conditions
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
Interventions
None listed
Sponsors
Vanda Pharmaceuticals
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to 50 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Circadian melatonin rhythm as measured by plasma melatonin | 36-hour blood sampling on week 1 |
| Circadian cortisol rhythms as measured by plasma cortisol | 36-hour blood sampling at week 1 |
| Circadian analytes rhythms as measured in plasma | 36-hour blood sampling at week 1 |
Secondary
| Measure | Time frame |
|---|---|
| Melatonin Light Response Test (MLRT) | After four week evaluation period |
| Genetic testing to confirm SMS diagnosis | blood sampling at screening visit |
| Salivary melatonin and cortisol | Four week evaluation period |
| Behavioral Scale | Four week evaluation period |
| Nighttime and daytime sleep as measured by actigraphy | Four week evaluation period |
| QOL Scale | Four week evaluation period |
Countries
United States
Outcome results
None listed