Clinical trials: Smith Magenis Syndrome
Chromosome Disorders
Melatonin Levels in Smith Magenis Syndrome (SMS)
The goal of this pilot project is to determine whether melatonin levels are disordered in patients with Smith-Magenis Syndrome (SMS) and whether melatonin treatment can correct abnormal circadian rhythms in SMS patients.
- Trial name
- NCT00691574
- Testing
- Melatonin, Enviro-light artificial light box
- Where
- United States
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Smith-Magenis Syndrome (SMS)
Natural History Study of Smith-Magenis Syndrome
This study will examine how a rare disease called Smith-Magenis syndrome (SMS) affects people and how they change over time. SMS is caused by a small chromosome 17p11.2 deletion (missing piece).
- Trial name
- NCT00013559
- Where
- United States
- Volunteers
- 593 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Circadian Rhythm Sleep Disorders, Non-24 Hour Sleep-Wake Disorder
Study of the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents
Open-label Study to Investigate the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents.
- Conditions
- Circadian Rhythm Sleep Disorders, Non-24 Hour Sleep-Wake Disorder, Autism Spectrum Disorder, Smith-Magenis Syndrome
- Trial name
- NCT02776215
- Testing
- tasimelteon
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Vanda Pharmaceuticals
RAI1 Gene 17P11.2 Deletion+Duplication
Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
Currently, there is no clinically available genetic-based treatment for RAI1 (Retinoic Acid-Induced 1) -related disorders other than symptomatic management and there are no established clinical or molecular biomarkers that could…
- Trial name
- NCT06274164
- Testing
- Electroencephalography/Polysomnography (EEG/PSG), Skin Biopsy, Blood draw
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Developmental Delay Disorders, Chromosome Deletion
Treatment Strategies for Children 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.
- Conditions
- Developmental Delay Disorders, Chromosome Deletion, Mental Retardation, Sleep Disorders, Circadian Rhythm
- Trial name
- NCT00506259
- Testing
- dTR Melatonin (NIH CC PDS), Phototherapy (Bright Light), Melatonin CR
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Sleep Disorders
Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities
The purpose of this study is to establish the efficacy and safety of Circadin in children with neurodevelopmental disorders and to determine the dose, this randomized, placebo-controlled study is planned to evaluate the efficacy…
- Trial name
- NCT01906866
- Testing
- Circadin 2/5/10 mg
- Where
- 28 sites in United States, Finland and 3 more
- Volunteers
- 125 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
Microdeletion Syndromes, Trisomy 21
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on…
- Conditions
- Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- Microdel Triad (NCT02109770)
- Where
- 2 sites in United States
- Volunteers
- 216 people
- Sponsor
- Natera, Inc.
Smith Magenis Syndrome
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.
- Trial name
- SMS-adults (NCT03492970)
- Testing
- Hourly dosing of the nychtemeral secretion of melatonin
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Hôpital le Vinatier
Smith-Magenis Syndrome, Circadian
Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS
The aim of this study is to investigate tasimelteon vs. placebo on sleep disturbances of individuals with Smith-Magenis Syndrome.
- Trial name
- NCT02231008
- Testing
- tasimelteon
- Where
- 4 sites in United States
- Volunteers
- 49 people
- Sponsor
- Vanda Pharmaceuticals
Genetic Obesity, Obesity
Setmelanotide Phase 2 Treatment Trial in Participants With Rare Genetic Disorders of Obesity
The purpose of the study was to determine the effect of setmelanotide (RM-493) on weight, hunger assessments, and other factors in participants with rare genetic disorders of obesity.
- Conditions
- Genetic Obesity, Obesity, Obesity Due to Melanocortin 4 Receptor Deficiency
- Trial name
- NCT03013543
- Testing
- Setmelanotide
- Where
- 58 sites in United States, Canada and 7 more
- Volunteers
- 213 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Sleep Disturbances in Smith-Magenis Syndrome
Development of Clinical Database of Individuals With Smith-Magenis Syndrome and Sleep Disturbances
This database will be used to better understand the sleep problems of people with SMS. This clinical database will be a part of a larger Smith-Magenis Patient Registry used to create an awareness campaign around SMS and the sleep…
- Trial name
- NCT03154697
- Testing
- Data collection of sleep disturbances in individuals with SMS
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Vanda Pharmaceuticals
Smith-Magenis Syndrome, Autism Spectrum Disorder
Smith Magenis Syndrome and Autism Spectrum Disorders
Autism Spectrum Disorders (ASD) are a neurodevelopmental disorder. Their prevalence is estimated at around 0.4% of the general population worldwide.
- Trial name
- SMS/TSA (NCT05116904)
- Testing
- Assessment
- Where
- 2 sites in France
- Volunteers
- 40 people
- Sponsor
- Hospices Civils de Lyon
Williams Syndrome, Angelman Syndrome
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II.
- Conditions
- Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome
- Trial name
- NCT00004351
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Smoking
Effectiveness of Messages to Mobile Phone in Smoke Cessation
Smoking remains a major risk factor for chronic diseases and is a real problem for health systems. The use of emerging technologies, such as mobile phone , may have a important role in smoking cessation programs through sending…
- Trial name
- NCT01746069
- Testing
- Quit smoking combined cessation programme, health advice
- Where
- Spain
- Volunteers
- 320 people
- Sponsor
- Basque Health Service
Sleep Problems
Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances
There is increasing evidence that chronic sleep disorders in children with autism spectrum disorder (ASD), Angelman Syndrome (AS) and Smith-Magenis syndrome (SMS) are associated with disturbed melatonin secretion and melatonin…
- Trial name
- NCT01903681
- Testing
- Circadin 2 mg, Circadin 10 mg
- Where
- Netherlands
- Volunteers
- 16 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Hypertension
Home Blood Pressure SMS Telemonitoring in the Primary Care Setting
Hypertension is a public health problem worldwide, being responsible for 9.4 million deaths worldwide each year, as well as contributing to the burden of coronary, cerebrovascular, renal diseases, among others.
- Trial name
- NCT03524456
- Testing
- Home blood pressure monitoring
- Where
- Peru
- Volunteers
- 40 people
- Sponsor
- Universidad Peruana Cayetano Heredia
Smith Magenis Syndrome
Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)
The purpose of this study is to characterize the circadian rhythm disruption experienced by patients as determined by plasma melatonin, cortisol, and other circadian analytes
- Trial name
- NCT02180451
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Vanda Pharmaceuticals
Angelman Syndrome, Smith-Magenis Syndrome
Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity
A significantly higher proportion of patients with rare diseases (RD) with intellectual disability (ID), present hyperphagia, overweight or obesity, compared to the general population.
- Conditions
- Angelman Syndrome, Smith-Magenis Syndrome, X Fragile Syndrome, Epilepsy
- Trial name
- HOGRID (NCT04768803)
- Testing
- acylated and unacylated ghrelin dosages
- Where
- 2 sites in France
- Volunteers
- 300 people
- Sponsor
- University Hospital, Toulouse