Clinical trial
Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome
Recruiting now · Not applicable · 1 countries · Registry ID NCT02602769
What this study is about
Rapid onset Obesity, Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation (ROHHAD) is a syndrome named in 2007. The hallmark of the syndrome is the rapid onset obesity and dysregulation of central ventilation. There is little information about the metabolic changes that lead to the rapid onset obesity in these children. The investigators would like to study the metabolic phenotype of these children to understand the disturbances in energy balance that lead to the rapid onset obesity.
Basic eligibility
Full registry criteria
Treatments and study arms
Transcriptome profiling
The investigators will obtain blood to extract peripheral mononuclear cells. These cells will be used to generate patient specific hypothalamic cells that will be used for transcriptome profiling.
Primary outcomes
The investigators will perform whole transcriptome profiling of iPSC-derived hypothalamic neurons and compare the whole genome sequencing to identify the changes that may give rise to the disease.
Study locations
2 locations were listed when this page was built. The first 40 are shown.