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Understanding ROHHAD Syndrome and Obesity in Children

This observational study aims to understand why children with ROHHAD syndrome (Rapid onset Obesity, Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation) experience rapid weight gain. Researchers will use a diagnostic test called transcriptome profiling, which involves taking a blood sample to create special hypothalamic cells. These cells will be studied to see how their genetic activity (transcriptome profile) differs in children with ROHHAD syndrome compared to their unaffected relatives. The goal is to identify metabolic changes that lead to the rapid onset of obesity in these children. This study is open to children aged 2 to 20 years old who have ROHHAD syndrome, but not those with known genetic causes of obesity. The study plans to enroll 12 participants.

Study design
This is an observational study planning to enroll 12 participants. It is not a treatment study, but rather aims to understand the underlying biology of ROHHAD syndrome.
What's involved
Participants will provide a blood sample for transcriptome profiling. The study aims to measure changes in cell profiles over a 2-year period.
Compensation
Not stated in the trial record.
Follow-up
Changes in the transcriptome profile will be measured at 2 years.

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NCT02602769

Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome

Recruiting
Not specifiedAges 2–20Observational
Columbia University
~12 participants
Updated 2025-10-21 on ClinicalTrials.gov
What's tested:Transcriptome profiling

At a glance

Recruiting sites
1 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Changes in the transcriptome profile of hypothalamic cells of children with ROHHAD syndrome compared to their unaffected first degree relatives.
Measured over 2 year

Conditions

Childhood Obesity
Morbid Obesity

Explore related trials

Childhood ObesityDysautonomiaHypothalamic syndromePsychogenic hyperventilationRapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation

Where it's being run

2 sites across 1 states
New York2

Study leadership

  • Vidhu Thaker, MD · PRINCIPAL_INVESTIGATOR · Columbia University

Who to contact

Vidhu Thaker, MD
[email protected]
2128515315
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Eligibility criteria

Inclusion

Children with ROHHAD syndrome

Exclusion

Children with known genetic causes of obesity

What this trial measures

  • Changes in the transcriptome profile of hypothalamic cells of children with ROHHAD syndrome compared to their unaffected first degree relatives.2 year

    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.