Genetic Testing and Phenotypic Characterization of Severely Obese Pediatric and Adult Volunteers
Genetic Testing and Phenotypic Characterization of Severely Obese Pediatric and Adult Volunteers
The purpose of this screening study is to identify people who have a rare genetic cause of
 obesity - specifically three genetic variants (a change in the DNA structure) of the POMC,
 PCSK1 and LepR genes that are currently known to result in obesity.

 This screening study will not include any investigational drugs. You will be asked to provide
 a DNA sample and answer some questions about your medical history and hunger.
Individuals who meet any of the following inclusion criteria may be eligible:

 1. Participant aged 2 or older.

 2. Study participant and/or parent or guardian is able to communicate well with the
 investigator, to understand and comply with the requirements of the study, and be able
 to understand and sign the written informed consent/assent.

 3. ≥40kg/m2 (age 18 and older) or 1.4x 95th percentile of BMI for age (ages 2-17) - with
 evidence of hunger or hyperphagia by screening surveys, indicated by a patient or
 observer score at or greater than midpoint of scale.

 o Individuals with clinical evidence of RGDO (per appendix 4) but do not meet the BMI
 criteria may be included if the investigators estimation and proband demonstrates a
 BMI Z-score difference of >1 between proband and any other sibling; and/or the proband
 demonstrates a BMI difference >10 kg/m2 between proband and parents.

 4. ≥50 kg/m2 (age 18 and older) or 1.5x 95th percentile of BMI for age (ages 2-17).
 Cohorts included under this criteria include ≥50-60 kg/m2 (age 18 and older) or 1.5x
 95th percentile of BMI for age (ages 2-17) and ≥60 kg/m2 (age 18 and older) or 1.6x
 95th percentile of BMI for age (ages 2-17).

 5. ≥ 40 kg/m2 (pre-operative) or 1.4x 95th percentile of BMI for age (ages 12-17) with
 history of bariatric surgery or planned surgery within 3 months (prior to or following
 screening).

 Individuals who meet any of the following exclusion criteria will not be eligible:

 1. Prior craniopharyngioma or other hypothalamic brain region surgery or
 surgeries/procedures for brain tumor, i.e., ventriculoperitoneal shunt and radiation
 therapy

 2. Diagnosis of Prader-Willi syndrome