Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| Circadian melatonin rhythm as measured by plasma melatonin | 36-hour blood sampling on week 1 | |
| Circadian melatonin rhythm as measured by plasma melatonin | 36-hour blood sampling on week 2 | |
| 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 1 | |
| Circadian cortisol rhythms as measured by plasma cortisol | 36-hour blood sampling at week 2 | |
| 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 1 | |
| Circadian analytes rhythms as measured in plasma | 36-hour blood sampling at week 2 | |
| Circadian analytes rhythms as measured in plasma | 36-hour blood sampling at week 4 |
| Measure | Description | Time Frame |
|---|---|---|
| Genetic testing to confirm SMS diagnosis | blood sampling at screening visit | |
| Nighttime and daytime sleep as measured by actigraphy | Four week evaluation period | |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Smith-Magenis patients
Not provided
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Baltimore | Maryland | United States |
Not provided
| ID | Term |
|---|---|
| D058496 | Smith-Magenis Syndrome |
| ID | Term |
|---|---|
| D021081 | Chronobiology Disorders |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
Not provided
Not provided
Not provided
Not provided
Not provided
Melatonin and Cortisol samples will be collected
| QOL Scale |
| Four week evaluation period |
| Melatonin Light Response Test (MLRT) | After four week evaluation period |
| Behavioral Scale | Four week evaluation period |
| Salivary melatonin and cortisol | Four week evaluation period |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |