Smith Magenis SyndromeNCT02180451
Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)
An observational study of Smith Magenis Syndrome, run by Vanda Pharmaceuticals at 1 site in United States.
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 Read more about this study
- Who is it for?
- Ages 6 to 50 years
- Conditions the study is for
- Smith Magenis Syndrome
- How many people
- 8 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2014to Jan 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Smith-Magenis patients
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
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
- Medical subject headings
- Smith-Magenis Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Circadian melatonin rhythm as measured by plasma melatonin
Measured: 36-hour blood sampling on week 1
Circadian melatonin rhythm as measured by plasma melatonin
Measured: 36-hour blood sampling on week 2
Circadian melatonin rhythm as measured by plasma melatonin
Measured: 36-hour blood sampling on week 4
Circadian cortisol rhythms as measured by plasma cortisol
Measured: 36-hour blood sampling at week 1
Circadian cortisol rhythms as measured by plasma cortisol
Measured: 36-hour blood sampling at week 2
Circadian cortisol rhythms as measured by plasma cortisol
Measured: 36-hour blood sampling at week 4
Circadian analytes rhythms as measured in plasma
Measured: 36-hour blood sampling at week 1
Circadian analytes rhythms as measured in plasma
Measured: 36-hour blood sampling at week 2
Circadian analytes rhythms as measured in plasma
Measured: 36-hour blood sampling at week 4
Secondary outcomes (6)
Genetic testing to confirm SMS diagnosis
Measured: blood sampling at screening visit
Nighttime and daytime sleep as measured by actigraphy
Measured: Four week evaluation period
QOL Scale
Measured: Four week evaluation period
Melatonin Light Response Test (MLRT)
Measured: After four week evaluation period
Behavioral Scale
Measured: Four week evaluation period
Salivary melatonin and cortisol
Measured: Four week evaluation period
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jul 2014 (estimated)
- Study startJun 2014
- Primary completionJan 2017 (estimated)
- Study completionJan 2017 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Smith Magenis SyndromeStudies of the same condition, open and under way.
- More trials run by Vanda PharmaceuticalsThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- Vanda Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02180451
- Sponsor's protocol ID
- VP-1401
- Status last verified
- Mar 2016
- First submitted
- 9 Jun 2014
- Last updated
- 25 Mar 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Mar 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)
- ClinicalTrials.gov ID
- NCT02180451
- Acronym / sponsor ID
- VP-1401
- Conditions
- Smith Magenis Syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Vanda PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Jun 2014
- Primary completion
- Jan 2017 (estimated)
- Study completion
- Jan 2017 (estimated)
- First posted
- 2 Jul 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Smith-Magenis patients
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (6 listed)
- 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.)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Circadian melatonin rhythm as measured by plasma melatonin
Time frame: 36-hour blood sampling on week 1
Circadian melatonin rhythm as measured by plasma melatonin
Time frame: 36-hour blood sampling on week 2
Circadian melatonin rhythm as measured by plasma melatonin
Time frame: 36-hour blood sampling on week 4
Circadian cortisol rhythms as measured by plasma cortisol
Time frame: 36-hour blood sampling at week 1
Circadian cortisol rhythms as measured by plasma cortisol
Time frame: 36-hour blood sampling at week 2
Circadian cortisol rhythms as measured by plasma cortisol
Time frame: 36-hour blood sampling at week 4
Circadian analytes rhythms as measured in plasma
Time frame: 36-hour blood sampling at week 1
Circadian analytes rhythms as measured in plasma
Time frame: 36-hour blood sampling at week 2
Circadian analytes rhythms as measured in plasma
Time frame: 36-hour blood sampling at week 4
6 secondary outcomes
Genetic testing to confirm SMS diagnosis
Time frame: blood sampling at screening visit
Nighttime and daytime sleep as measured by actigraphy
Time frame: Four week evaluation period
QOL Scale
Time frame: Four week evaluation period
Melatonin Light Response Test (MLRT)
Time frame: After four week evaluation period
Behavioral Scale
Time frame: Four week evaluation period
Salivary melatonin and cortisol
Time frame: Four week evaluation period
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Mar 2016.
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Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Smith Magenis Syndrome, run by Vanda Pharmaceuticals at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 25 Mar 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Circadian melatonin rhythm as measured by plasma melatonin (time frame: 36-hour blood sampling on week 1). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Mar 2016.