Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity.
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Obesity. Basic parameters: up to 80 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity
Overview
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.
Primary outcome measures
- Identification of known or novel genetic variants in genes that underlie obesity. [Time frame: 1.5-2 years]
Secondary outcome measures (1)
- Prevalence of melanocortin receptor 4 mutations. [Time frame: 2 years]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 2 centers
- Boston Children's Hospital — Boston
- Columbia University Medical Center — New York
Publications
- 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
- Nigam S, Zhu M, Shoemaker AH, Gross AC, Fox CK, Thaker VV. Novel model of childhood appetitive traits in children with obesity. Int J Obes (Lond). 2025 Jun;49(6):1084-1091. doi: 10.1038/s41366-025-01747-z. Epub 2025 Mar 27. PMID 40148561
Identifiers
NCT: NCT01998750 · AAAR0351 · P00009351 · 5K23DK110539-03