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Melatonin in Adults With SMS (SMS-adults)

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ClinicalTrials.gov Identifier: NCT03492970
Recruitment Status : Completed
First Posted : April 10, 2018
Last Update Posted : April 22, 2019
Hospices Civils de Lyon
Information provided by (Responsible Party):
Hôpital le Vinatier

Brief 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. 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

Condition or disease Intervention/treatment Phase
Smith Magenis Syndrome Biological: Hourly dosing of the nychtemeral secretion of melatonin Not Applicable

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

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 10 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Intervention 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)
Primary Purpose: Screening
Official Title: Characterization of Behavioral Disorders and 24 H-melatonin Level in Adults With Smith Magenis Syndrome
Actual Study Start Date : March 7, 2018
Actual Primary Completion Date : January 30, 2019
Actual Study Completion Date : March 30, 2019

Resource links provided by the National Library of Medicine

Drug Information available for: Melatonin

Arm Intervention/treatment
10 adult patients with SMS
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
Biological: Hourly dosing of the nychtemeral secretion of melatonin
Hourly dosing of the nychtemeral secretion of melatonin links and with sleep disorders and behavior of adult patients with SMS

Primary Outcome Measures :
  1. 24h melatonin levels [ Time Frame: 24 hours ]
    Plasmatic melatonin level will be assessed every hour during 24h for each subject

Secondary Outcome Measures :
  1. Analysis of actimetry [ Time Frame: 15 days ]
    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 .

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Ages Eligible for Study:   18 Years to 65 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Patient with Smith Magenis Syndrome aged 18 years or older
  • subject or guardian having signed the consent

Exclusion Criteria:

  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03492970

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CH Le Vinatier
BRON Cedex, Rhône-Alpes, France, 69678
Sponsors and Collaborators
Hôpital le Vinatier
Hospices Civils de Lyon
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Principal Investigator: POISSON ALICE, PH CH LE VINATIER
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Responsible Party: Hôpital le Vinatier
ClinicalTrials.gov Identifier: NCT03492970    
Other Study ID Numbers: 2017-A02299-44
First Posted: April 10, 2018    Key Record Dates
Last Update Posted: April 22, 2019
Last Verified: April 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Smith-Magenis Syndrome
Pathologic Processes
Chronobiology Disorders
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Molecular Mechanisms of Pharmacological Action
Protective Agents
Physiological Effects of Drugs
Central Nervous System Depressants