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

NCT02180451 | Unknown

• 1 other identifier: VP-1401
• Study Type: observational
• Target: 8
• Locations: 1 country
• Sites: 1

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

Conditions

Smith Magenis Syndrome

Outcome Measures

Primary Outcomes (9)

• 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

Secondary Outcomes (6)

• Genetic testing to confirm SMS diagnosis

  blood sampling at screening visit

• Nighttime and daytime sleep as measured by actigraphy

  Four week evaluation period

• QOL Scale

  Four week evaluation period

• Melatonin Light Response Test (MLRT)

  After four week evaluation period

• Behavioral Scale

  Four week evaluation period

Eligibility Criteria

• Age: 6 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Smith-Magenis patients

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Vanda Pharmaceuticals: lead

Study Sites (1)

Unknown Facility

Baltimore, Maryland, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Melatonin and Cortisol samples will be collected

MeSH Terms

Conditions

Smith-Magenis Syndrome

Condition Hierarchy (Ancestors)

Chronobiology Disorders; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 9, 2014
• First Posted: July 2, 2014
• Study Start: June 1, 2014
• Primary Completion: January 1, 2017
• Study Completion: January 1, 2017
• Last Updated: March 25, 2016

Record last verified: 2016-03

Locations

US (1)