Genetic Testing and Phenotypic Characterization of Severely Obese Pediatric and Adult Volunteers



Status:Recruiting
Healthy:No
Age Range:2 - Any
Updated:1/18/2019
Start Date:September 28, 2016
End Date:May 21, 2021
Contact:Sarah Pilley
Email:spilley@rhythmtx.com

Use our guide to learn which trials are right for you!

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
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2201 West End Ave
Nashville, Tennessee 37232
(615) 322-7311
Principal Investigator: Ashley Shoemaker, MD
Phone: 615-343-2188
Vanderbilt University Vanderbilt offers undergraduate programs in the liberal arts and sciences, engineering, music, education...
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Gainesville, Florida 32610
(352) 392-3261
Principal Investigator: Jennifer Miller, MD
Phone: 352-294-5280
University of Florida The University of Florida (UF) is a major, public, comprehensive, land-grant, research...
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116th St and Broadway
New York, New York 10027
(212) 854-1754
Principal Investigator: Wendy K Chung, MD
Phone: 212-305-1573
Columbia University In 1897, the university moved from Forty-ninth Street and Madison Avenue, where it...
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Albuquerque, New Mexico 87131
(505) 277-0111
Principal Investigator: Sylvia Negrete
Phone: 505-272-9898
University of New Mexico Founded in 1889 as New Mexico’s flagship institution, the University of...
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Brooklyn, New York 11201
Principal Investigator: Paul Hannan
Phone: 516-545-0951
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Buffalo, New York 14203
Principal Investigator: Indrajit Majumdar
Phone: 716-323-0075
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700 Childrens Dr
Columbus, Ohio 43205
Principal Investigator: Ihuoma Eneli, MD, MS, FAAP
Phone: 614-722-3598
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Durham, North Carolina 27705
Principal Investigator: Michael Freemark, MD
Phone: 919-684-1352
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Edmonton, Alberta T6G 2J2
Principal Investigator: Andrea Haqq, MD
Phone: 780-293-3449
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Hialeah, Florida 33016
Principal Investigator: Carlito Arrogante
Phone: 786-762-2700
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Lake Success, New York 11042
Principal Investigator: Parissa Salemi, DO
Phone: 516-472-3750
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Las Vegas, Nevada 89106
Principal Investigator: Constance Brown
Phone: 702-889-0061
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Los Angeles, California
Principal Investigator: Lydie Hazan
Phone: 310-289-8242
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Los Angeles, California 90036
Principal Investigator: Patrick Clarke
Phone: 213-484-0180
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910 Madison Avenue
Memphis, Tennessee 38103
Principal Investigator: Joan Han, MD
Phone: 901-287-6869
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New York, New York 10022
Principal Investigator: Scott Bloom
Phone: 646-625-3011
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301 East Princeton Street
Orlando, Florida 32804
Principal Investigator: Steven R Smith, MD
Phone: 407-303-1342
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4800 Sand Point Way NE
Seattle, Washington 98105
(206) 987-2000
Principal Investigator: Christian Roth, MD
Phone: 206-884-8150
Seattle Children's Hospital Seattle Children’s Hospital specializes in meeting the unique physical, emotional and developmental...
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Springfield, Massachusetts
Principal Investigator: Rushika Conroy
Phone: 413-794-1466
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111 Michigan Ave NW
Washington, District of Columbia
(202) 476-5000
Principal Investigator: Nazrat Mirza, MD, ScD
Phone: 202-476-4524
Childrens National Medical Center As the nation’s children’s hospital, the mission of Children’s National Medical...
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