Clinical Trial: Metabolic Phenotyping in Children With ROHHAD Syndrome

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Metabolic Phenotyping in Children With ROHHAD Syndrome

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.

Detailed Summary:

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 biological mechanisms behind rapid weight gain in early childhood in children with ROHHAD syndrome compared with age, sex and BMI matched controls.

Aim 1. Determine if changes in the energy expenditure contribute to the severe obesity in children with ROHHAD syndrome: The investigators will perform detailed metabolic phenotyping including total energy expenditure by using doubly labeled water, resting energy expenditure using indirect calorimetry, body composition by Dual X-ray absorptiometry. The investigators anticipate that children with ROHHAD syndrome will have low total and resting energy expenditure compared to age-, sex- and BMI- matched controls.

Aim 2: Determine if feeding and/or feeding signals in the postprandial period are dysregulated in children with ROHHAD syndrome: The investigators will measure spontaneous food intake, and following responses through the postprandial state: leptin, ghrelin and metabolic fuel
Sponsor: Boston Children’s Hospital

Current Primary Outcome: Changes in energy expenditure in children with ROHHAD syndrome compared to overweight, but otherwise healthy children. [ Time Frame: 2 year ]

The investigators will perform total energy expenditure with isotope labeled water and resting energy expenditure by indirect calorimetry. The difference between the two will provide a measure of active energy expenditure.


Original Primary Outcome: Changes in energy expenditure in children with ROHHAD syndrome compared to overweight, but otherwise healthy children. [ Time Frame: 2 year ]

Current Secondary Outcome: Differences in feeding and/or feeding signals in the postprandial in children with ROHHAD syndrome, compared to overweight, but otherwise healthy children. [ Time Frame: 2 years ]

The energy intake will be measured using food questionnaires and dietary recall. The feeding signals will be measured in the blood levels of hormones like leptin and ghrelin after a standard meal of Boost milkshake.


Original Secondary Outcome: Differences in feeding and/or feeding signals in the postprandial in children with ROHHAD syndrome, compared to overweight, but otherwise healthy children. [ Time Frame: 2 years ]

Information By: Boston Children’s Hospital

Dates:
Date Received: November 7, 2015
Date Started: November 2015
Date Completion: November 2020
Last Updated: September 9, 2016
Last Verified: September 2016