Smith Magenis SyndromeSMS-adultsNCT03492970
Melatonin in Adults With SMS
A study testing Hourly dosing of the nychtemeral secretion of melatonin in people with Smith Magenis Syndrome, run by Hôpital le Vinatier at 1 site in France.
Trial summary
Sleep-Wake and behavioral disorders in Smith Magenis Syndrome (SMS) are strongly linked to an inversion of the nychtemeral secretion of melatonin. This inversion have been described in children with SMS. However its evolution during adulthood remains unknown. Read more about this study
- Who is it for?
- Ages 18 to 65 years
- Conditions the study is for
- Smith Magenis Syndrome
- What is being tested?
- Hourly dosing of the nychtemeral secretion of melatonin
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteFrance
- Study dates
- 7 Mar 2018to 30 Mar 2019
- Phase
- Interventional
- 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 18 to 65 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Patient with Smith Magenis Syndrome aged 18 years or older
- subject or guardian having signed the consent
Who cannot join
- Pregnant women
- Minor subject
- Diagnosis of Smith Magenis syndrome not certain
- Taking benzodiazepines or related substances
- Taking betablockers
- Major behavioral disorders versus indicating participation in this study
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Characterization of Behavioral Disorders and 24 H-melatonin Level in Adults With Smith Magenis Syndrome
Sleep-Wake and behavioral disorders in Smith Magenis Syndrome (SMS) are strongly linked to an inversion of the nychtemeral secretion of melatonin. This inversion have been described in children with SMS. However its evolution during adulthood remains unknown. The aim of this study is to assess 24hours melatonin levels in 10 adults with SMS in order to optimize medication in adults with SMS
Read the detailed description
SMS is one of the rare syndromes in which the inversion of melatonin secretion is regular, which is an exceptional situation for the study of the influence of genetic factors on the regulation of sleep / wake rhythm. Recently, point mutations of the RAI1 gene (Retinoic Acid Induced 1) have been identified in individuals with the clinical features of SMS with a reversal of the secretion rate of melatonin ,highlighting the role of RAI1 in SMS sleep disorders.
Daytime secretion of melatonin is associated with significant drowsiness and plays a major role in diurnal behavior disorders, especially in younger people. Conversely, the absence of nocturnal melatonin is a causal factor in the shortening and fragmentation of nocturnal sleep .
Basically, little is known about the mechanisms that explain the inversion of the secretion rate of melatonin in SMS.
These aspects, and in particular the nycthemeral reversal of the melatonin cycle, have been described in a population of children and we do not know how these disturbances evolve in adulthood
- Conditions
- Smith Magenis Syndrome
- Being tested
- Hourly dosing of the nychtemeral secretion of melatonin
- Medical subject headings
- Smith-Magenis Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Hourly dosing of the nychtemeral secretion of melatoninBiological
Hourly dosing of the nychtemeral secretion of melatonin links and with sleep disorders and behavior of adult patients with SMS
| Study group | Role | What they receive |
|---|---|---|
| 10 adult patients with SMS | Other | Specify the evolution of the nycthemeral cycle of melatonin secretion in adult subjects carrying an SMS Behavioral characterization of adult subjects with SMS Make recommendations on the management of sleep / sleep rhythm disorders and behavior in adult subjects with SMS Receives: Biological: Hourly dosing of the nychtemeral secretion of melatonin |
What is being measured
The primary outcome is the main question the study is designed to answer.
24h melatonin levels
Plasmatic melatonin level will be assessed every hour during 24h for each subject
Measured: 24 hours
Secondary outcomes (1)
Analysis of actimetry
At the end of the Visit 1 interview, an actimeter will be given to the patient to be worn on the previous two weeks before Visit 2. This will allow the evaluation of the sleep / wake rhythm in the usual life situation. The actimeter will be reported by the patient during the second visit .
Measured: 15 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Apr 2018
- Study start7 Mar 2018
- Primary completion30 Jan 2019
- Study completion30 Mar 2019
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.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- To specify the evolution of the nycthéméral cycle of the secretion of melatonin in 10 adult subjects carrying a SMS
- Masking
- None (open label)
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hôpital le Vinatier
- Sponsor type
- University, hospital or other
- Collaborators
- Hospices Civils de Lyon
- Responsible party
- Sponsor
- Investigators
- POISSON ALICE, PH, Principal investigator, CH LE VINATIER
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03492970
- Sponsor's protocol ID
- 2017-A02299-44
- Acronym
- SMS-adults
- Status last verified
- Apr 2019
- First submitted
- 1 Mar 2018
- Last updated
- 22 Apr 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Apr 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of Behavioral Disorders and 24 H-melatonin Level in Adults With Smith Magenis Syndrome
- ClinicalTrials.gov ID
- NCT03492970
- Acronym / sponsor ID
- SMS-adults / 2017-A02299-44
- Conditions
- Smith Magenis Syndrome
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Hôpital le VinatierUniversity, hospital or other
- Collaborators
- Hospices Civils de Lyon
- Study start
- 7 Mar 2018 (actual)
- Primary completion
- 30 Jan 2019 (actual)
- Study completion
- 30 Mar 2019 (actual)
- First posted
- 10 Apr 2018 (actual)
- 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.
Sleep-Wake and behavioral disorders in Smith Magenis Syndrome (SMS) are strongly linked to an inversion of the nychtemeral secretion of melatonin. This inversion have been described in children with SMS. However its evolution during adulthood remains unknown. The aim of this study is to assess 24hours melatonin levels in 10 adults with SMS in order to optimize medication in adults with SMS
Detailed description
SMS is one of the rare syndromes in which the inversion of melatonin secretion is regular, which is an exceptional situation for the study of the influence of genetic factors on the regulation of sleep / wake rhythm. Recently, point mutations of the RAI1 gene (Retinoic Acid Induced 1) have been identified in individuals with the clinical features of SMS with a reversal of the secretion rate of melatonin ,highlighting the role of RAI1 in SMS sleep disorders.
Daytime secretion of melatonin is associated with significant drowsiness and plays a major role in diurnal behavior disorders, especially in younger people. Conversely, the absence of nocturnal melatonin is a causal factor in the shortening and fragmentation of nocturnal sleep .
Basically, little is known about the mechanisms that explain the inversion of the secretion rate of melatonin in SMS.
These aspects, and in particular the nycthemeral reversal of the melatonin cycle, have been described in a population of children and we do not know how these disturbances evolve in adulthood
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- To specify the evolution of the nycthéméral cycle of the secretion of melatonin in 10 adult subjects carrying a SMS
| Arm | Type | Receives |
|---|---|---|
| 10 adult patients with SMS | Other | Biological: Hourly dosing of the nychtemeral secretion of melatoninSpecify the evolution of the nycthemeral cycle of melatonin secretion in adult subjects carrying an SMS Behavioral characterization of adult subjects with SMS Make recommendations on the management of sleep / sleep rhythm disorders and behavior in adult subjects with SMS |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- Patient with Smith Magenis Syndrome aged 18 years or older
- subject or guardian having signed the consent
Key exclusion criteria (6 listed)
- Pregnant women
- Minor subject
- Diagnosis of Smith Magenis syndrome not certain
- Taking benzodiazepines or related substances
- Taking betablockers
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Hourly dosing of the nychtemeral secretion of melatoninHourly dosing of the nychtemeral secretion of melatonin links and with sleep disorders and behavior of adult patients with SMS | Biological | 10 adult patients with SMS |
Primary outcome
24h melatonin levels
Time frame: 24 hours
Plasmatic melatonin level will be assessed every hour during 24h for each subject
1 secondary outcome
Analysis of actimetry
Time frame: 15 days
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Apr 2019.
- Individual participant dataSharing planned: No
Related trials for Smith Magenis Syndrome
Recruiting
Smith Magenis Syndrome and Autism Spectrum Disorders
Smith-Magenis Syndrome, Autism Spectrum Disorder
Enrolling by invitation
Parent and Infant Inter(X)Action Intervention (PIXI)
Fragile X Syndrome, Angelman Syndrome
RecruitingObservational study
Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
RAI1 Gene 17P11.2 Deletion+Duplication
RecruitingObservational study
Development of Clinical Database of Individuals With Smith-Magenis Syndrome and Sleep Disturbances
Sleep Disturbances in Smith-Magenis Syndrome
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.
POISSON ALICE, PH principal investigator
CH LE VINATIER
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Hourly dosing of the nychtemeral secretion of melatonin in people with Smith Magenis Syndrome, run by Hôpital le Vinatier at 1 site in France.
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 2 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: finished, as of the sponsor's last update on 22 Apr 2019. 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 France. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
24h melatonin levels (time frame: 24 hours). 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 22 Apr 2019.