Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome

ConditionsChildhood Obesity Morbid Obesity

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age2-20

SponsorColumbia University

About this trial

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 criteria

This trial does not accept healthy volunteers

Qualifiers

Children with ROHHAD syndrome

Disqualifiers

Children with known genetic causes of obesity

Trial population

Children diagnosed with ROHHAD (Rapid onset Obesity, Hypoventilation, Hypothalamic dysfunction, Autonomic Disturbances), and their first degree relatives.

Trial design

Design model

Case-control

Time perspective

Prospective

Treatments tested in this trial

Transcriptome profiling
Diagnostic test
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.

Treatment groups

12 Participants

are divided into 2 treatment groups

Group A: Cases of ROHHAD syndrome1 intervention

Group B: Control cohort1 intervention

Trial outcomes

Primary outcomes

Changes in the transcriptome profile of hypothalamic cells of children with ROHHAD syndrome compared to their unaffected first degree relatives.

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.

Time frame

2 year

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Columbia University

Lead sponsor

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Collaborator

ROHHAD Association

Collaborator

Source ClinicalTrials.gov

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