View clinical trials related to Smith-Magenis Syndrome.
Filter by: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
Open-label Study to Investigate the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents.
The aim of this study is to investigate tasimelteon vs. placebo on sleep disturbances of individuals with Smith-Magenis Syndrome.
This study will examine the effect of bright light or melatonin treatment on sleep in children with Smith-Magenis syndrome (SMS), a genetic disorder characterized by certain physical, behavioral and developmental features. Patients have a disrupted sleep cycle involving early waking, frequent daytime napping and frequent nighttime awakenings. Melatonin is a hormone normally produced at night in healthy people. People with SMS produce high levels of melatonin during the daytime and very low levels at night. This may affect their behavior, mood, attention span and sleep patterns. Healthy volunteers between 18 and 45 years of age and children with SMS who are between 3 and 16 years of age may be eligible for this study. Healthy subjects are admitted to the NIH Clinical Center overnight. In the morning they take one dose of time-release melatonin and have blood and saliva samples collected hourly from 7:00 AM to 6:00 PM. Children with SMS participate in a 2-part study, as follows: Part 1 Inpatient Trial Pre-trial at-home phase: During the month before NIH inpatient admission, participants do the following: - Wear an actiwatch device or keep a daily sleep diary to monitor daytime alertness, mood shifts and sleep patterns. - Complete a behavior assessment survey related to the child s behaviors and sleep patterns. - Obtain frequent body temperature measurements. - Collect several saliva samples over a 24-hour period. NIH admission phase: - Children are admitted to the NIH Clinical Center for 2-3 nights for bright light treatment. They remain in their rooms for alternating periods of exposure to standard dim room light and bright light, using a light box placed within 3 to 5 feet of the child. An electroencephalogram (EEG) with additional electrodes to track eye movements is used to monitor the child s attention. Between 8AM and 6PM serial blood samples are collected to measure melatonin levels. A parent rates the child s mood and behavior during the 2-day test period. - Children are admitted to the NIH Clinical Center for 2-3 nights for melatonin treatment. They take a single dose of melatonin or placebo tablet at bedtime. During the daytime, EEG electrodes are placed to track eye movements. Between 7 PM and 7 AM serial blood samples are collected to measure melatonin levels. A parent rates the child s behavior and mood as described for the bright light study. - Children may receive either or both of the bright light and melatonin treatments. Part 2 Outpatient Trial Children participate in a combined bright light with melatonin trial at home. They undergo the same procedures outlined in the pre-trial at-home phase of Part 1 (actiwatch, behavior assessments, body temperature measurements, saliva samples) over an 11-week period. If saliva samples cannot be collected for melatonin testing, 24-hour urine samples may be collected instead.
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p. III. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23. IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2. V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13. VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene. VII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.