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

Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01998750

Acronym

GECO

Enrollment

500

Registered

2013-12-02

Start date

2014-02-28

Completion date

2030-12-31

Last updated

2025-10-21

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Obesity

Keywords

obesity, genetics, early-onset, childhood

Brief summary

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.

Detailed description

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

No minimum to 80 Years

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
Identification of known or novel genetic variants in genes that underlie obesity.	1.5-2 years	Identification of known or novel genetic variants in genes that underlie obesity.

Secondary

Measure	Time frame	Description
Prevalence of melanocortin receptor 4 mutations.	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.

Countries

United States

Contacts

Primary ContactVidhu Thaker, M.D.

vvt2114@cumc.columbia.edu212-851-5315

Outcome results