Melatonin in Adults With SMS (SMS-adults)

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

Study Overview

• Status: Completed
• Conditions: Smith Magenis Syndrome
• Intervention / Treatment: Biological: Hourly dosing of the nychtemeral secretion of melatonin

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 Type: Interventional
• Enrollment (Actual): 10
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Rhône-Alpes
    • BRON Cedex, Rhône-Alpes, France, 69678
      • CH Le Vinatier

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 65 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
24h melatonin levels	Plasmatic melatonin level will be assessed every hour during 24h for each subject	24 hours

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 .	15 days

Collaborators and Investigators

• Sponsor: Hôpital le Vinatier
• Collaborators: Hospices Civils de Lyon
• Investigators: Principal Investigator: POISSON ALICE, PH, CH Le Vinatier

Study record dates

Study Major Dates

• Study Start (Actual): March 7, 2018
• Primary Completion (Actual): January 30, 2019
• Study Completion (Actual): March 30, 2019

Study Registration Dates

• First Submitted: March 1, 2018
• First Submitted That Met QC Criteria: April 9, 2018
• First Posted (Actual): April 10, 2018

Study Record Updates

• Last Update Posted (Actual): April 22, 2019
• Last Update Submitted That Met QC Criteria: April 19, 2019
• Last Verified: April 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Abnormalities, Multiple; Chromosome Disorders; Chronobiology Disorders; Syndrome; Smith-Magenis Syndrome; Physiological Effects of Drugs; Molecular Mechanisms of Pharmacological Action; Central Nervous System Depressants; Protective Agents; Antioxidants; Melatonin
• Other Study ID Numbers: 2017-A02299-44

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No