Understanding metabolic changes in children with ROHHAD syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to investigate the metabolic phenotype of children diagnosed with Rapid onset Obesity, Hypoventilation, Hypothalamic dysfunction, and Autonomic Dysregulation (ROHHAD) syndrome. Researchers will generate patient-specific induced pluripotent stem cells (iPSCs) to derive hypothalamic neurons and perform whole transcriptome profiling to identify transcriptional changes associated with the syndrome. By comparing these profiles with those of unaffected relatives and reference datasets, the study seeks to uncover the metabolic disturbances leading to rapid onset obesity in affected children. Selected participants may also undergo detailed metabolic phenotyping to further elucidate these changes.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Children with ROHHAD syndrome

Exclusion Criteria:

* Children with known genetic causes of obesity

Where it's running

• Columbia University Irving Medical Center
  New York, New York, United States Recruiting
• Boston Children's Hospital
  Boston, New York, United States Completed

Study contacts

• Principal investigator: Vidhu Thaker, MD — Columbia University
• Study coordinator: Vidhu Thaker, MD
• Email: vvt2114@cumc.columbia.edu
• Phone: 2128515315

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.