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| ID | Type | Description | Link |
|---|---|---|---|
| P00009351 | Other Identifier | Boston Children's Hospital | |
| 5K23DK110539-03 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| Boston Children's Hospital | OTHER |
| National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | NIH |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of melanocortin receptor 4 mutations. | 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. | 2 years |
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Inclusion Criteria:
- BMI > 99th percentile documented at age < 6 years of age
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Vidhu Thaker, M.D. | Contact | 212-851-5315 | vvt2114@cumc.columbia.edu |
| Name | Affiliation | Role |
|---|---|---|
| Vidhu Thaker, M.D. | Columbia University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Boston Children's Hospital | Active, not recruiting | Boston | Massachusetts | 02115 | United States | |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 30811542 | Result | 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. | |
| 40148561 | Derived | 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. |
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Deidentified data will be deposited in public databases at the end of the study
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| ID | Term |
|---|---|
| D009765 | Obesity |
| ID | Term |
|---|---|
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D009750 | Nutritional and Metabolic Diseases |
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Saliva or blood
| Columbia University Medical Center |
| Recruiting |
| New York |
| New York |
| 10032 |
| United States |
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| D001835 |
| Body Weight |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |