Understanding metabolic changes in children with ROHHAD syndrome
Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome
Columbia University · NCT02602769
This study is trying to understand the metabolic changes in children with ROHHAD syndrome to see how it affects their weight and overall health.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 12 (estimated) |
| Ages | 2 Years to 20 Years |
| Sex | All |
| Sponsor | Columbia University (other) |
| Locations | 2 sites (Boston, New York and 1 other locations) |
| Trial ID | NCT02602769 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are children diagnosed with ROHHAD syndrome.
Not a fit: Children with known genetic causes of obesity are unlikely to benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of the metabolic mechanisms behind ROHHAD syndrome, potentially guiding future treatments.
How similar studies have performed: While there is limited information on similar studies specifically targeting ROHHAD syndrome, the approach of using iPSC-derived neurons for metabolic profiling has shown promise in other conditions.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Children with ROHHAD syndrome Exclusion Criteria: * Children with known genetic causes of obesity
Where this trial is running
Boston, New York and 1 other locations
- Boston Children's Hospital — Boston, New York, United States (COMPLETED)
- Columbia University Irving Medical Center — New York, New York, United States (RECRUITING)
Study contacts
- Principal investigator: Vidhu Thaker, MD — Columbia University
- Study coordinator: Vidhu Thaker, MD
- Email: vvt2114@cumc.columbia.edu
- Phone: 2128515315
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Childhood Obesity, Morbid Obesity, Hypoventilation syndrome, Hypothalamic dysfunction, Autonomic dysregulation, Rapid onsey obesity