Genetic Testing and Phenotypic Characterization of Severely Obese Pediatric and Adult Volunteers
November 14, 2022 updated by: Rhythm Pharmaceuticals, Inc.
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.
Study Overview
Status
Completed
Study Type
Observational
Enrollment (Actual)
5966
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
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Alberta
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Edmonton, Alberta, Canada, T6G 2E1
- University of Alberta
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Berlin, Germany
- Charite Campus Virchow-Klinikum Institute for Experimental Pediatric Endocrinology
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Patras, Greece, 26504
- University of Hospital of Patras
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Petach Tikva, Israel, 49100
- Schneider Children's Medical Center of Israel - Petah Tikvah - PIN
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Petah Tikva, Israel, 49100
- Rabin Medical Center - PPDS
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Ramat Gan, Israel, 52621
- Chaim Sheba Medical Center
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Rehovot, Israel, 76100
- Kaplan Medical Center
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Tel Aviv, Israel, 64329
- Tel Aviv Sourasky Medical Center
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Oggebbio, Italy, 28824
- IRCCS Istituto Auxologico Italiano
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Guimarães, Portugal, 4835-044
- Hospital Senhora da Oliveira -Guimaraes, E.P.E
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Alabama
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Birmingham, Alabama, United States, 35211
- Synexus Clinical Research US, Inc. - Simon Williamson Clinic, PC
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Arizona
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Chandler, Arizona, United States, 85224
- Synexus Clinical Research US, Inc. - Phoenix Southeast
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Mesa, Arizona, United States
- Clinical Research Advantage Inc.
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Tucson, Arizona, United States, 85710
- Tucson Neuroscience Research - M3 Wake Research
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California
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Encino, California, United States, 91316
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Los Alamitos, California, United States, 90720
- PRI, LLC - Los Alamitos - M3 Wake Research
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Los Angeles, California, United States
- Axis Clinical Trails
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Los Angeles, California, United States
- Axis Clinical Trials
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Newport Beach, California, United States, 92660
- PRI, LLC - Newport Beach - M3 Wake Research
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Delaware
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Wilmington, Delaware, United States, 19803
- Nemours Foundation Alfred Dupont Children's Hospital
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District of Columbia
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Washington, District of Columbia, United States, 20010
- Children's National Medical Center
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Florida
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Gainesville, Florida, United States, 32610
- University of Florida
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Hialeah, Florida, United States
- South Florida Clinical Trials
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Orlando, Florida, United States, 32827
- Nemours Children's Hospital
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Orlando, Florida, United States, 32804
- Translational Research Inst. for Metabolism and Diabetes
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Palm Harbor, Florida, United States, 34684
- Palm Harbor Medical Associates - BTC - PPDS
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Pinellas Park, Florida, United States, 33781
- Synexus Clinical Research US, Inc. - St. Petersburg
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Illinois
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Chicago, Illinois, United States, 60602
- Synexus Clinical Research US, Inc. - Chicago
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Maine
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Portland, Maine, United States, 4102
- Maine Medical Partners Pediatric Specialty Care
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Massachusetts
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Springfield, Massachusetts, United States
- Baystate Children's Hospital, Division of Pediatric Endocrinology
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Michigan
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Grand Rapids, Michigan, United States, 49503
- Helen DeVos Children's Hospital Healthy Weight Center
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Missouri
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Bridgeton, Missouri, United States, 63044
- Synexus Clinical Research US, Inc. - West Florissant Internists
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Nevada
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Las Vegas, Nevada, United States
- Impact Clinical Trials - Las Vegas
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New Mexico
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Albuquerque, New Mexico, United States
- University of New Mexico
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New York
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Brooklyn, New York, United States
- New York Clinical Trials-Brooklyn
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Buffalo, New York, United States, 14203
- Division of Endocrinology/Diabetes Amanda House
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Lake Success, New York, United States, 11042
- Cohen Children's Medical Center of NY
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New York, New York, United States, 10032
- Columbia University
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New York, New York, United States, 10016
- NYU Langone Medical Center
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New York, New York, United States
- New York Clinical Trials-Manhattan
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North Carolina
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Chapel Hill, North Carolina, United States, 27599
- University of North Carolina at Chapel Hill
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Chapel Hill, North Carolina, United States, 27514-4220
- UNC Health Care - NC Children's Specialty Clinic
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Durham, North Carolina, United States, 27705
- Duke University Hospital
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Ohio
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Akron, Ohio, United States, 44311
- Synexus Clinical Research US, Inc. - Akron
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Cincinnati, Ohio, United States, 45236
- Synexus Clinical Research US, Inc. - Cincinnati
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Columbus, Ohio, United States, 43205
- Nationwide Children's Hospital, Center for Healthy Weight and Nutrition
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Columbus, Ohio, United States, 43212
- Synexus Clinical Research US, Inc. - Columbus
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Oklahoma
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Oklahoma City, Oklahoma, United States, 73111
- Synexus Clinical Research US, Inc. - Centennial Health, PC -
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South Carolina
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Anderson, South Carolina, United States, 29621
- Synexus Clinical Research US, Inc. - Primary Care Associates
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Tennessee
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Memphis, Tennessee, United States, 38103
- University of Tennesseee Health Science Center
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Memphis, Tennessee, United States, 38120
- Medical Research Center of Memphis, LLC - M3 Wake Research
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Nashville, Tennessee, United States, 37232
- Vanderbilt University
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Texas
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Amarillo, Texas, United States, 79106
- Texas Tech University Health Sciences Center
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Dallas, Texas, United States, 75234
- Synexus - Synexus US, LP - Dallas
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DeSoto, Texas, United States, 75115
- Global Medical Research - M3 Wake Research
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San Antonio, Texas, United States, 78229
- Synexus Clinical Research US, Inc. - San Antonio
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Utah
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Salt Lake City, Utah, United States, 84132
- University of Utah, Department of Surgery
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Washington
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Seattle, Washington, United States, 98105
- Seattle Children's Hospital
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
1 year and older (Child, Adult, Older Adult)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Sampling Method
Non-Probability Sample
Study Population
The objective is to identify individuals with severe, early onset morbid obesity (EOMO), who are aged 2 years of age or older, and are suspected to be either homozygous, compound heterozygous or heterozygous for loss of function mutations in the POMC, PCSK1 or LepR gene, leading to a clinical presentation of Melanocortin 4 (MC4) pathway deficiency obesity.
Individuals may be contacted for further assessment of clinical features (including questionnaires on past weight and medical history and current hunger and feeding behavior symptoms) and/or participation in future Rhythm clinical trials.
Description
Individuals who meet any of the following inclusion criteria may be eligible:
- Participant aged 2 or older.
- 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.
≥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.
- ≥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).
- ≥ 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:
- Prior craniopharyngioma or other hypothalamic brain region surgery or surgeries/procedures for brain tumor, i.e., ventriculoperitoneal shunt and radiation therapy
- Diagnosis of Prader-Willi syndrome
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
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Cohort 1
If the subject has a history of hyperphagia, early onset obesity and/or clinical characteristics known to be related to mutations in the MC4R pathway and related to obesity (1.4 times 95th percentile in children).
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Cohort 2
If the subject has exponentially high BMI (≥50 to 59), without hyperphagia and early onset obesity, whose obesity may be driven by an MC4R pathway mutation in the absence of other clear history or clinical characteristics (1.5 - 1.6 times 95th percentile in children).
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Cohort 3
If the subject has exponentially high BMI (≥60), without hyperphagia and early onset obesity, whose obesity may be driven by an MC4R pathway mutation in the absence of other clear history or clinical characteristics (1.6 times 95th percentile in children).
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Cohort 4
If the subject has had or is undergoing bariatric surgery, who represents a refractory population of severely obese individuals whose obesity may be driven by an MC4R pathway mutation in the absence of other clear history or clinical characteristics (1.4 times 95th percentile in children and adolescents aged 12 and older).
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
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Identification of individuals with POMC, LepR or PCSK1 genetic mutations
Time Frame: 1 Year
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1 Year
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Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Study Chair: David Meeker, Rhythm Pharmceuticals, Inc.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
September 28, 2016
Primary Completion (Actual)
June 9, 2020
Study Completion (Actual)
June 9, 2020
Study Registration Dates
First Submitted
July 26, 2016
First Submitted That Met QC Criteria
July 26, 2016
First Posted (Estimate)
July 29, 2016
Study Record Updates
Last Update Posted (Actual)
November 15, 2022
Last Update Submitted That Met QC Criteria
November 14, 2022
Last Verified
November 1, 2022
More Information
Terms related to this study
Keywords
Other Study ID Numbers
- RM-493-013
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.