Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome
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.
Description
Late-onset hypoventilation syndrome with hypothalamic dysfunction was first described in 1965 and renamed to ROHHAD syndrome in 2007 by Ize-Ludlow et al. The hallmark of ROHHAD syndrome is rapid-onset obesity starting at approximately 1.5 years of age with weight gain of 12-20 kg/year, central hypoventilation distinct from the obstructive hypoventilation caused by obesity, hyperphagia, a spectrum of pituitary hormonal dysfunction, and autonomic disturbances including temperature, blood pressure, and nociception abnormalities. Some children have been noted with developmental and behavioral abn…
Eligibility
- Age range
- 2–20 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Children with ROHHAD syndrome Exclusion Criteria: * Children with known genetic causes of obesity
Interventions
- Diagnostic TestTranscriptome 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 HospitalBoston, New York
- Columbia University Irving Medical CenterNew York, New York