Melatonin in Adults With SMS

Smith Magenis Syndrome Clinical Trial

— SMS-adults  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03492970
• Other study ID #: 2017-A02299-44
• Status: Completed
• Phase: N/A
• Start date: March 7, 2018
• Est. completion date: March 30, 2019

Study information

• Verified date: April 2019
• Source: Hôpital le Vinatier
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical 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. 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

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 10
• Est. completion date: March 30, 2019
• Est. primary completion date: January 30, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 65 Years

Eligibility

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

Related Conditions & MeSH terms

• Smith Magenis Syndrome
• Smith-Magenis Syndrome
• Syndrome

Intervention

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

Locations

Country	Name	City	State
France	CH Le Vinatier	BRON Cedex	Rhône-Alpes

Sponsors (2)

Lead Sponsor	Collaborator
Hôpital le Vinatier	Hospices Civils de Lyon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	24h melatonin levels	Plasmatic melatonin level will be assessed every hour during 24h for each subject	24 hours
Secondary	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