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Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome
Sponsor: Columbia University
Summary
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.
Key Details
Gender
All
Age Range
2 Years - 20 Years
Study Type
OBSERVATIONAL
Enrollment
12
Start Date
2015-11
Completion Date
2026-12
Last Updated
2025-10-21
Healthy Volunteers
No
Conditions
Interventions
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.
Locations (2)
Boston Children's Hospital
Boston, New York, United States
Columbia University Irving Medical Center
New York, New York, United States