Melatonin in Adults With SMS (SMS-adults)

Hôpital le Vinatier

Status: Completed

Conditions: Smith Magenis Syndrome

Treatments: Biological: Hourly dosing of the nychtemeral secretion of melatonin

Study type: Interventional

Funder types: Other

Identifiers

NCT03492970

2017-A02299-44

Details and patient eligibility

About

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

Full 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

Enrollment: 10 patients

Sex: All

Ages: 18 to 65 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Screening

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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10 participants in 1 patient group

10 adult patients with SMS

Other group

Description:

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

Treatment:

Biological: Hourly dosing of the nychtemeral secretion of melatonin