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



Status:Recruiting
Conditions:Obesity Weight Loss
Therapuetic Areas:Endocrinology
Healthy:No
Age Range:Any - 21
Updated:3/7/2019
Start Date:February 2014
End Date:December 2030
Contact:Vidhu Thaker, M.D.
Email:vvt2114@cumc.columbia.edu
Phone:212-851-5315

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Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity

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.

This is a clinical and genomic study designed to investigate monogenic causes of severe early
childhood obesity.

Participatns 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.

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.
We found this trial at
2
sites
630 W 168th St
New York, New York
212-305-2862
Phone: 212-851-5315
Columbia University Medical Center Situated on a 20-acre campus in Northern Manhattan and accounting for...
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New York, New York 10032
Principal Investigator: Vidhu Thaker, MD
Phone: 212-851-5315
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