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

March 24, 2016 updated by: Vanda Pharmaceuticals
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

Study Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Actual)

8

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

4 years to 48 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Smith-Magenis patients

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Circadian melatonin rhythm as measured by plasma melatonin
Time Frame: 36-hour blood sampling on week 1
36-hour blood sampling on week 1
Circadian melatonin rhythm as measured by plasma melatonin
Time Frame: 36-hour blood sampling on week 2
36-hour blood sampling on week 2
Circadian melatonin rhythm as measured by plasma melatonin
Time Frame: 36-hour blood sampling on week 4
36-hour blood sampling on week 4
Circadian cortisol rhythms as measured by plasma cortisol
Time Frame: 36-hour blood sampling at week 1
36-hour blood sampling at week 1
Circadian cortisol rhythms as measured by plasma cortisol
Time Frame: 36-hour blood sampling at week 2
36-hour blood sampling at week 2
Circadian cortisol rhythms as measured by plasma cortisol
Time Frame: 36-hour blood sampling at week 4
36-hour blood sampling at week 4
Circadian analytes rhythms as measured in plasma
Time Frame: 36-hour blood sampling at week 1
36-hour blood sampling at week 1
Circadian analytes rhythms as measured in plasma
Time Frame: 36-hour blood sampling at week 2
36-hour blood sampling at week 2
Circadian analytes rhythms as measured in plasma
Time Frame: 36-hour blood sampling at week 4
36-hour blood sampling at week 4

Secondary Outcome Measures

Outcome Measure
Time Frame
Genetic testing to confirm SMS diagnosis
Time Frame: blood sampling at screening visit
blood sampling at screening visit
Nighttime and daytime sleep as measured by actigraphy
Time Frame: Four week evaluation period
Four week evaluation period
QOL Scale
Time Frame: Four week evaluation period
Four week evaluation period
Melatonin Light Response Test (MLRT)
Time Frame: After four week evaluation period
After four week evaluation period
Behavioral Scale
Time Frame: Four week evaluation period
Four week evaluation period
Salivary melatonin and cortisol
Time Frame: Four week evaluation period
Four week evaluation period

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Vanda Pharmaceuticals

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2014

Primary Completion (Anticipated)

January 1, 2017

Study Completion (Anticipated)

January 1, 2017

Study Registration Dates

First Submitted

June 9, 2014

First Submitted That Met QC Criteria

June 30, 2014

First Posted (Estimate)

July 2, 2014

Study Record Updates

Last Update Posted (Estimate)

March 25, 2016

Last Update Submitted That Met QC Criteria

March 24, 2016

Last Verified

March 1, 2016

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • VP-1401

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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