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NCT Number: NCT03492970

Melatonin in Adults With SMS

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

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Key information

Conditions

Smith Magenis Syndrome Abnormalities, Multiple Chromosome Disorders Chronobiology Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Nervous System Diseases Smith-Magenis Syndrome

Age range

18 year–65 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CH Le Vinatier

Bron, Auvergne-Rhône-Alpes, 69678, France

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Hourly dosing of the nychtemeral secretion of melatonin

Biological

Hourly dosing of the nychtemeral secretion of melatonin links and with sleep disorders and behavior of adult patients with SMS

Primary outcomes

  1. 24h melatonin levels

    Time frame: 24 hours

    Plasmatic melatonin level will be assessed every hour during 24h for each subject

Secondary outcomes

  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 .

Sponsors and collaborators

Lead sponsor

Hôpital le Vinatier

Other

Collaborators

  • Hospices Civils de Lyon

Registry information

Official study title

Characterization of Behavioral Disorders and 24 H-melatonin Level in Adults With Smith Magenis Syndrome

Acronym: SMS-adults

Important dates

Study start
2018
Primary completion
2019
Study completion
2019
First posted
Apr 10, 2018
Registry last updated
Apr 22, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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