RecruitingNCT02602769

Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome


Sponsor

Columbia University

Enrollment

12 participants

Start Date

Nov 1, 2015

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Min Age: 2 YearsMax Age: 20 Years

Inclusion Criteria1

  • Children with ROHHAD syndrome

Exclusion Criteria1

  • Children with known genetic causes of obesity

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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 Hospital

Boston, New York, United States

Columbia University Irving Medical Center

New York, New York, United States

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NCT02602769


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