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

NCT01998750 | Recruiting

• 3 other identifiers: AAAR0351P000093515K23DK110539-03
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 2

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.

Conditions

Obesity

Keywords

obesity; genetics; early-onset; childhood

Outcome Measures

Primary Outcomes (1)

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

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

  1.5-2 years

Secondary Outcomes (1)

• Prevalence of melanocortin receptor 4 mutations.

  2 years

Study Arms (1)

Early-onset severe obesity

The study will enroll individuals with early onset severe obesity (BMI \> 99th percentile noted at an age \< 6 years of age). Individuals with a known history of early onset obesity are eligible, regardless of their current age.

Eligibility Criteria

• Age: Up to 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

This study will enroll children with BMI \> 99th percentile for age noted prior to 6 years of age. Current age of the child can vary from 0-21 years.

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Columbia University: lead
• Boston Children's Hospital: collaborator
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator

Study Sites (2)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

ACTIVE NOT RECRUITING

Columbia University Medical Center

New York, New York, 10032, United States

RECRUITING

Related Publications (1)

• De Rosa MC, Chesi A, McCormack S, Zhou J, Weaver B, McDonald M, Christensen S, Liimatta K, Rosenbaum M, Hakonarson H, Doege CA, Grant SFA, Hirschhorn JN, Thaker VV. Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity. J Clin Endocrinol Metab. 2019 Jul 1;104(7):2961-2970. doi: 10.1210/jc.2018-02657.

  PMID: 30811542 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Saliva or blood

MeSH Terms

Conditions

Obesity

Condition Hierarchy (Ancestors)

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

Study Officials

• Vidhu Thaker, M.D.

  Columbia University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Vidhu Thaker, M.D.

CONTACT

212-851-5315; vvt2114@cumc.columbia.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: November 25, 2013
• First Posted: December 2, 2013
• Study Start: February 1, 2014
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2030
• Last Updated: October 21, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)