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

Vanda Pharmaceuticals

Status: Unknown

Conditions: Smith Magenis Syndrome

Study type: Observational

Funder types: Industry

Identifiers

NCT02180451

VP-1401

Details and patient eligibility

About

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

Enrollment: 8 patients

Sex: All

Ages: 6 to 50 years old

Volunteers: No Healthy Volunteers

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