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Trial record 3 of 3 for:    ROHHAD

Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome

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ClinicalTrials.gov Identifier: NCT02602769
Recruitment Status : Recruiting
First Posted : November 11, 2015
Last Update Posted : March 5, 2019
Sponsor:
Collaborator:
Columbia University
Information provided by (Responsible Party):
Vidhu Thaker, Boston Children’s Hospital

Brief Summary:
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.

Condition or disease Intervention/treatment
Childhood Obesity Morbid Obesity Diagnostic Test: Transcriptome profiling

Detailed Description:

Late-onset hypoventilation syndrome with hypothalamic dysfunction was first described in 1965 and renamed to ROHHAD syndrome in 2007 by Ize-Ludlow et al.

The hallmark of ROHHAD syndrome is rapid-onset obesity starting at approximately 1.5 years of age with weight gain of 12-20 kg/year, central hypoventilation distinct from the obstructive hypoventilation caused by obesity, hyperphagia, a spectrum of pituitary hormonal dysfunction, and autonomic disturbances including temperature, blood pressure, and nociception abnormalities. Some children have been noted with developmental and behavioral abnormalities. Tumors of neural crest origin have been identified in 25-33% of the patients. The etiology of ROHHAD syndrome and the cause of rapid onset obesity is unknown.

The aims of this study are to understand the whole transcriptome profiling of patient specific induced pluripotent cell (iPSC) derived hypothalamic neurons to understand the transcriptional level changes that give rise to the manifestations seen in ROHHAD syndrome.

Aim 1. Generate patient specific iPSC-derived hypothalamic neurons from children with ROHHAD syndrome and their unaffected first degree relatives.

Aim 2: Compare the whole transcriptome profiling of the patient derived cells compared to those of unaffected relatives and reference datasets to understand the differences in transcriptome that gives rise to ROHHAD syndrome.

Aim 3: Selected patients may be invited to participate for detailed metabolic phenotyping to understand the mechanisms of excessive weight gain.


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Study Type : Observational
Estimated Enrollment : 12 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome
Study Start Date : November 2015
Estimated Primary Completion Date : December 2020
Estimated Study Completion Date : December 2025

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
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.

Diagnostic Test: Transcriptome profiling
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.

Control cohort
Unaffected first degree family members. The investigators will perform transcriptome profiling in this group.
Diagnostic Test: Transcriptome profiling
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.




Primary Outcome Measures :
  1. Changes in the transcriptome profile of hypothalamic cells of children with ROHHAD syndrome compared to their unaffected first degree relatives. [ Time Frame: 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.


Biospecimen Retention:   Samples Without DNA
The investigators will retain blood samples for future measurement of hormones involved in regulation of weight, appetite and satiety.


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Ages Eligible for Study:   2 Years to 20 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Children diagnosed with ROHHAD (Rapid onset Obesity, Hypoventilation, Hypothalamic dysfunction, Autonomic Disturbances), and their first degree relatives.
Criteria

Inclusion Criteria:

  • children with ROHHAD syndrome

Exclusion Criteria:

  • children with known genetic causes of obesity

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02602769


Contacts
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Contact: Vidhu Thaker, MD 2128515315 vvt2114@cumc.columbia.edu

Locations
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United States, New York
Boston Children's Hospital Recruiting
Boston, New York, United States, 02115
Contact: Vidhu Thaker, MD    212-851-5315    vidhu.thaker@childrens.harvard.edu   
Sub-Investigator: Leslie Benson, MD         
Columbia University Medical Center Recruiting
New York, New York, United States, 10032
Contact: Vidhu Thaker, MD    212-851-5315    vvt2114@cumc.columbia.edu   
Sponsors and Collaborators
Boston Children’s Hospital
Columbia University
Investigators
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Principal Investigator: Vidhu Thaker, MD Columbia University

Publications of Results:
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Responsible Party: Vidhu Thaker, Associate Scientific Staff, Boston Children’s Hospital
ClinicalTrials.gov Identifier: NCT02602769     History of Changes
Other Study ID Numbers: P00018387
First Posted: November 11, 2015    Key Record Dates
Last Update Posted: March 5, 2019
Last Verified: March 2019
Additional relevant MeSH terms:
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Obesity
Obesity, Morbid
Pediatric Obesity
Overnutrition
Nutrition Disorders
Overweight
Body Weight
Signs and Symptoms