Clinical trial NCT01998750: Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity.
Official title: Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Obesity
Keywords: obesity
genetics
early-onset
childhood
Lead sponsor: Columbia University
Sponsor class: OTHER
Collaborators: name: Boston Children's Hospital
name: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
First posted: 2013-12-02
Enrollment: 500
Sex: ALL
Maximum age (years): 80
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: 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.

Brief summary: 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.

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.

Primary outcomes:
measure: Identification of known or novel genetic variants in genes that underlie obesity.
timeFrame: 1.5-2 years
Secondary outcomes:
measure: Prevalence of melanocortin receptor 4 mutations.
timeFrame: 2 years
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: New York
country: United States
facility: Columbia University Medical Center
state: New York
Study officials:
affiliation: Columbia University
name: Vidhu Thaker, M.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.