Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome

Part of paid clinical trials in Boston, New York.

Sponsor
Columbia University
Study ID
NCT02602769
Status
Recruiting
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Conditions

  • Childhood Obesity
  • Morbid Obesity

Eligibility Criteria

Sex
ALL
Age
2 Years - 20 Years
Healthy Volunteers
Not accepted

Interventions

  • 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.

Study Details

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.

Key Dates

Start date
Nov 30, 2015
Status verified
Oct 2025
Primary completion
Dec 31, 2026
Completion
Dec 31, 2026

Study Design

Enrollment
12 participants (estimated)

Arms

  • Arm: Cases of ROHHAD syndrome
    Children diagnosed with ROHHAD syndrome during the course of their clinical care by their physicians. The investigators will perform transcriptome profiling in this group.
  • Arm: Control cohort
    Unaffected first degree family members. The investigators will perform transcriptome profiling in this group.

Primary Outcome Measure

Changes in the transcriptome profile of hypothalamic cells of children with ROHHAD syndrome compared to their unaffected first degree relatives. [ Time Frame: 2 year ]

Central Contacts

Locations (2)

FacilityCityStateZIPSite coordinators
Boston Children's HospitalBostonNew York02115-
Columbia University Irving Medical CenterNew YorkNew York10032
Vidhu Thaker, MD
[email protected]
212-851-5315

Find similar trials in Boston, NY

By research site
Boston Children's Hospital· Boston, NYColumbia University Irving Medical Center· New York, NY

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