Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Obesity
- Sponsor
- Columbia University
- Enrollment
- 500
- Locations
- 2
- Primary Endpoint
- Identification of known or novel genetic variants in genes that underlie obesity.
- Status
- Recruiting
- Last Updated
- 6 months ago
Overview
Brief Summary
This study aims to investigate genetic causes of early childhood obesity.
The investigators will enroll children and young 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.
Investigators
Vidhu V. Thaker
Assistant Professor
Columbia University
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.
Outcomes
Primary Outcomes
Identification of known or novel genetic variants in genes that underlie obesity.
Time Frame: 1.5-2 years
Identification of known or novel genetic variants in genes that underlie obesity.
Secondary Outcomes
- Prevalence of melanocortin receptor 4 mutations.(2 years)