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NCT Number: NCT01998750

Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity.

This study aims to investigate genetic causes of early childhood obesity.

The investigators will enroll children and adults with severe early onset obesity (BMI > 99th percentile) diagnosed prior to 6 years of age. The investigators will ask questions about the health and eating behavior of the participants, and perform a brief physical examination. The investigators will collect saliva or blood to perform genetic testing from the participants and invite family members to enroll in the study.

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Key information

Conditions

Obesity Body Weight Nutrition Disorders Nutritional and Metabolic Diseases Overnutrition Overweight Pathological Conditions, Signs and Symptoms Signs and Symptoms

Age range

Up to 80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Boston Children's Hospital, Boston, Massachusetts, United States

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About this study

This is a clinical and genomic study designed to investigate monogenic causes of severe early childhood obesity.

Participants with severe early onset obesity will be identified by screening of the clinical database or referred for the study. These subjects will be invited to participate in the study. After obtaining informed consent, the investigators will obtain history on the proband and the family, and perform a brief examination in addition to collecting genetic material.

Targeted sequencing of genes associated with monogenic and syndromic forms of obesity will be performed using next-generation sequencing. In selected individuals with favorable family history, exome or whole genome sequencing will be performed. Functional analysis of newly identified variants will be performed where possible.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • BMI > 99th percentile documented at age < 6 years of age

Exclusion criteria

  • Known genetic causes of obesity
  • Known Endocrine causes of obesity.
  • Neurologic tumor, trauma or surgery
  • Prior malignancy or transplant
  • Known autoimmune diseases
  • Edema of a known or unknown cause
  • Prolonged steroid use.

Treatment and study plan

Primary outcomes

  1. Identification of known or novel genetic variants in genes that underlie obesity.

    Time frame: 1.5-2 years

    Identification of known or novel genetic variants in genes that underlie obesity.

Secondary outcomes

  1. Prevalence of melanocortin receptor 4 mutations.

    Time frame: 2 years

    We will test the hypothesis that 1-3% of early onset obesity could be explained by carriage of mutation of monogenic obesity such as melanocortin receptor 4 in a mixed pediatric population.

Study contacts

Contact information is provided by the study sponsor or research team.

Vidhu Thaker, M.D.

CONTACT

[email protected]

212-851-5315

Sponsors and collaborators

Lead sponsor

Columbia University

Other

Collaborators

  • Boston Children's Hospital
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Registry information

Official study title

Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity

Acronym: GECO

Important dates

Study start
2014
Primary completion
2026
Study completion
2030
First posted
Dec 2, 2013
Registry last updated
Oct 21, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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