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

Smith Magenis Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT02180451
• Other study ID #: VP-1401
• Status: Active, not recruiting
• Phase: N/A
• First received: June 9, 2014
• Last updated: March 24, 2016
• Start date: June 2014
• Est. completion date: January 2017

Study information

• Verified date: March 2016
• Source: Vanda Pharmaceuticals
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 8
• Est. completion date: January 2017
• Est. primary completion date: January 2017
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 6 Years to 50 Years

Eligibility

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

Study Design

Observational Model: Case-Only, Time Perspective: Prospective

Related Conditions & MeSH terms

• Smith Magenis Syndrome
• Smith-Magenis Syndrome
• Syndrome

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Vanda Pharmaceuticals

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Circadian melatonin rhythm as measured by plasma melatonin		36-hour blood sampling on week 1	No
Primary	Circadian melatonin rhythm as measured by plasma melatonin		36-hour blood sampling on week 2	No
Primary	Circadian melatonin rhythm as measured by plasma melatonin		36-hour blood sampling on week 4	No
Primary	Circadian cortisol rhythms as measured by plasma cortisol		36-hour blood sampling at week 1	No
Primary	Circadian cortisol rhythms as measured by plasma cortisol		36-hour blood sampling at week 2	No
Primary	Circadian cortisol rhythms as measured by plasma cortisol		36-hour blood sampling at week 4	No
Primary	Circadian analytes rhythms as measured in plasma		36-hour blood sampling at week 1	No
Primary	Circadian analytes rhythms as measured in plasma		36-hour blood sampling at week 2	No
Primary	Circadian analytes rhythms as measured in plasma		36-hour blood sampling at week 4	No
Secondary	Genetic testing to confirm SMS diagnosis		blood sampling at screening visit	No
Secondary	Nighttime and daytime sleep as measured by actigraphy		Four week evaluation period	No
Secondary	QOL Scale		Four week evaluation period	No
Secondary	Melatonin Light Response Test (MLRT)		After four week evaluation period	No
Secondary	Behavioral Scale		Four week evaluation period	No
Secondary	Salivary melatonin and cortisol		Four week evaluation period	No