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

NCT ID: NCT02849977

Last Updated: 2022-11-15

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

5966 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-09-28

Study Completion Date

2020-06-09

Brief Summary

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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.

Detailed Description

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Conditions

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Pro-opiomelanocortin (POMC), Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) and Leptin Receptor (LepR) Gene Mutations

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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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).

No interventions assigned to this group

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).

No interventions assigned to this group

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).

No interventions assigned to this group

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).

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

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).

Exclusion Criteria

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
Minimum Eligible Age

2 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Rhythm Pharmaceuticals, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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David Meeker

Role: STUDY_CHAIR

Rhythm Pharmceuticals, Inc.

Locations

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Synexus Clinical Research US, Inc. - Simon Williamson Clinic, PC

Birmingham, Alabama, United States

Site Status

Synexus Clinical Research US, Inc. - Phoenix Southeast

Chandler, Arizona, United States

Site Status

Clinical Research Advantage Inc.

Mesa, Arizona, United States

Site Status

Tucson Neuroscience Research - M3 Wake Research

Tucson, Arizona, United States

Site Status

Encino, California, United States

Site Status

PRI, LLC - Los Alamitos - M3 Wake Research

Los Alamitos, California, United States

Site Status

Axis Clinical Trails

Los Angeles, California, United States

Site Status

Axis Clinical Trials

Los Angeles, California, United States

Site Status

PRI, LLC - Newport Beach - M3 Wake Research

Newport Beach, California, United States

Site Status

Nemours Foundation Alfred Dupont Children's Hospital

Wilmington, Delaware, United States

Site Status

Children's National Medical Center

Washington D.C., District of Columbia, United States

Site Status

University of Florida

Gainesville, Florida, United States

Site Status

South Florida Clinical Trials

Hialeah, Florida, United States

Site Status

Translational Research Inst. for Metabolism and Diabetes

Orlando, Florida, United States

Site Status

Nemours Children's Hospital

Orlando, Florida, United States

Site Status

Palm Harbor Medical Associates - BTC - PPDS

Palm Harbor, Florida, United States

Site Status

Synexus Clinical Research US, Inc. - St. Petersburg

Pinellas Park, Florida, United States

Site Status

Synexus Clinical Research US, Inc. - Chicago

Chicago, Illinois, United States

Site Status

Maine Medical Partners Pediatric Specialty Care

Portland, Maine, United States

Site Status

Baystate Children's Hospital, Division of Pediatric Endocrinology

Springfield, Massachusetts, United States

Site Status

Helen DeVos Children's Hospital Healthy Weight Center

Grand Rapids, Michigan, United States

Site Status

Synexus Clinical Research US, Inc. - West Florissant Internists

Bridgeton, Missouri, United States

Site Status

Impact Clinical Trials - Las Vegas

Las Vegas, Nevada, United States

Site Status

University of New Mexico

Albuquerque, New Mexico, United States

Site Status

New York Clinical Trials-Brooklyn

Brooklyn, New York, United States

Site Status

Division of Endocrinology/Diabetes Amanda House

Buffalo, New York, United States

Site Status

Cohen Children's Medical Center of NY

Lake Success, New York, United States

Site Status

NYU Langone Medical Center

New York, New York, United States

Site Status

Columbia University

New York, New York, United States

Site Status

New York Clinical Trials-Manhattan

New York, New York, United States

Site Status

UNC Health Care - NC Children's Specialty Clinic

Chapel Hill, North Carolina, United States

Site Status

University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, United States

Site Status

Duke University Hospital

Durham, North Carolina, United States

Site Status

Synexus Clinical Research US, Inc. - Akron

Akron, Ohio, United States

Site Status

Synexus Clinical Research US, Inc. - Cincinnati

Cincinnati, Ohio, United States

Site Status

Nationwide Children's Hospital, Center for Healthy Weight and Nutrition

Columbus, Ohio, United States

Site Status

Synexus Clinical Research US, Inc. - Columbus

Columbus, Ohio, United States

Site Status

Synexus Clinical Research US, Inc. - Centennial Health, PC -

Oklahoma City, Oklahoma, United States

Site Status

Synexus Clinical Research US, Inc. - Primary Care Associates

Anderson, South Carolina, United States

Site Status

University of Tennesseee Health Science Center

Memphis, Tennessee, United States

Site Status

Medical Research Center of Memphis, LLC - M3 Wake Research

Memphis, Tennessee, United States

Site Status

Vanderbilt University

Nashville, Tennessee, United States

Site Status

Texas Tech University Health Sciences Center

Amarillo, Texas, United States

Site Status

Synexus - Synexus US, LP - Dallas

Dallas, Texas, United States

Site Status

Global Medical Research - M3 Wake Research

DeSoto, Texas, United States

Site Status

Synexus Clinical Research US, Inc. - San Antonio

San Antonio, Texas, United States

Site Status

University of Utah, Department of Surgery

Salt Lake City, Utah, United States

Site Status

Seattle Children's Hospital

Seattle, Washington, United States

Site Status

University of Alberta

Edmonton, Alberta, Canada

Site Status

Charite Campus Virchow-Klinikum Institute for Experimental Pediatric Endocrinology

Berlin, , Germany

Site Status

University of Hospital of Patras

Pátrai, , Greece

Site Status

Rabin Medical Center - PPDS

Petah Tikva, , Israel

Site Status

Schneider Children's Medical Center of Israel - Petah Tikvah - PIN

Petah Tikva, , Israel

Site Status

Chaim Sheba Medical Center

Ramat Gan, , Israel

Site Status

Kaplan Medical Center

Rehovot, , Israel

Site Status

Tel Aviv Sourasky Medical Center

Tel Aviv, , Israel

Site Status

IRCCS Istituto Auxologico Italiano

Oggebbio, , Italy

Site Status

Hospital Senhora da Oliveira -Guimaraes, E.P.E

Guimarães, , Portugal

Site Status

Countries

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United States Canada Germany Greece Israel Italy Portugal

Other Identifiers

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RM-493-013

Identifier Type: -

Identifier Source: org_study_id

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