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In order to better understand early onset obesity and to identify patients in interested in future research studies, including clinical trials, we aim to develop a registry for patients with early onset obesity.
Obesity is an epidemic effecting the pediatric population. Currently, 17% of children are classified as obese and 32% as overweight. Many of these children develop complications including type 2 diabetes, dyslipidemia, hypertension and hepatic steatosis. Obesity is a global epidemic that lacks effective treatment options. Obesity has many underlying causes including genetic predisposition and environmental factors. Understanding the genetic basis of obesity may allow for more precisely targeted interventions including specific dietary plans and pharmacologic treatments. The most common cause of genetic obesity is haploinsufficiency of the melanocortin-4 receptor (MC4R). In obese adult cohorts, the prevalence of pathogenic MC4R mutations is 1-2%. Commercial testing is available for many obesity syndromes, but the cost is high and charges are not always covered by insurance. Clinicians have little motivation to test patients for MC4R mutations as no treatments are available and it is not clear if genetic testing results change patient behavior. This particular lab and other groups are working to develop novel pharmacologic treatments for obesity syndromes, such as MC4R deficiency. In order to better understand early onset obesity and to identify patients in interested in future research studies, including clinical trials, the investigators aim to develop a registry for patients with early onset obesity.
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| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of genetic mutations in DNA analysis | 5 years |
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Inclusion Criteria:
Exclusion Criteria:
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Children with a history of excessive weight gain.
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| Name | Affiliation | Role |
|---|---|---|
| Ashley Shoemaker, MD | Vanderbilt University Medical Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Vanderbilt University | Nashville | Tennessee | 37232 | United States |
Data will be shared with collaborators and on a case by case basis. Please contact Dr. Shoemaker for information.
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| ID | Term |
|---|---|
| D063766 | Pediatric Obesity |
| ID | Term |
|---|---|
| D009765 | Obesity |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
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DNA sample collected once in the form of either saliva or 5 mL of blood
| D009750 |
| Nutritional and Metabolic Diseases |
| D001835 | Body Weight |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |