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

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

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02849977
• Other study ID #: RM-493-013
• Status: Completed
• Start date: September 28, 2016
• Est. completion date: June 9, 2020

Study information

• Verified date: November 2022
• Source: Rhythm Pharmaceuticals, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 5966
• Est. completion date: June 9, 2020
• Est. primary completion date: June 9, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Years and older

Eligibility

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

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
Canada	University of Alberta	Edmonton	Alberta
Germany	Charite Campus Virchow-Klinikum Institute for Experimental Pediatric Endocrinology	Berlin
Greece	University of Hospital of Patras	Patras
Israel	Schneider Children's Medical Center of Israel - Petah Tikvah - PIN	Petach Tikva
Israel	Rabin Medical Center - PPDS	Petah Tikva
Israel	Chaim Sheba Medical Center	Ramat Gan
Israel	Kaplan Medical Center	Rehovot
Israel	Tel Aviv Sourasky Medical Center	Tel Aviv
Italy	IRCCS Istituto Auxologico Italiano	Oggebbio
Portugal	Hospital Senhora da Oliveira -Guimaraes, E.P.E	Guimarães
United States	Synexus Clinical Research US, Inc. - Akron	Akron	Ohio
United States	University of New Mexico	Albuquerque	New Mexico
United States	Texas Tech University Health Sciences Center	Amarillo	Texas
United States	Synexus Clinical Research US, Inc. - Primary Care Associates	Anderson	South Carolina
United States	Synexus Clinical Research US, Inc. - Simon Williamson Clinic, PC	Birmingham	Alabama
United States	Synexus Clinical Research US, Inc. - West Florissant Internists	Bridgeton	Missouri
United States	New York Clinical Trials-Brooklyn	Brooklyn	New York
United States	Division of Endocrinology/Diabetes Amanda House	Buffalo	New York
United States	Synexus Clinical Research US, Inc. - Phoenix Southeast	Chandler	Arizona
United States	UNC Health Care - NC Children's Specialty Clinic	Chapel Hill	North Carolina
United States	University of North Carolina at Chapel Hill	Chapel Hill	North Carolina
United States	Synexus Clinical Research US, Inc. - Chicago	Chicago	Illinois
United States	Synexus Clinical Research US, Inc. - Cincinnati	Cincinnati	Ohio
United States	Nationwide Children's Hospital, Center for Healthy Weight and Nutrition	Columbus	Ohio
United States	Synexus Clinical Research US, Inc. - Columbus	Columbus	Ohio
United States	Synexus - Synexus US, LP - Dallas	Dallas	Texas
United States	Global Medical Research - M3 Wake Research	DeSoto	Texas
United States	Duke University Hospital	Durham	North Carolina
United States	University of Florida	Gainesville	Florida
United States	Helen DeVos Children's Hospital Healthy Weight Center	Grand Rapids	Michigan
United States	South Florida Clinical Trials	Hialeah	Florida
United States	Cohen Children's Medical Center of NY	Lake Success	New York
United States	Impact Clinical Trials - Las Vegas	Las Vegas	Nevada
United States	PRI, LLC - Los Alamitos - M3 Wake Research	Los Alamitos	California
United States	Axis Clinical Trails	Los Angeles	California
United States	Axis Clinical Trials	Los Angeles	California
United States	Medical Research Center of Memphis, LLC - M3 Wake Research	Memphis	Tennessee
United States	University of Tennesseee Health Science Center	Memphis	Tennessee
United States	Clinical Research Advantage Inc.	Mesa	Arizona
United States	Vanderbilt University	Nashville	Tennessee
United States	Columbia University	New York	New York
United States	New York Clinical Trials-Manhattan	New York	New York
United States	NYU Langone Medical Center	New York	New York
United States	PRI, LLC - Newport Beach - M3 Wake Research	Newport Beach	California
United States	Synexus Clinical Research US, Inc. - Centennial Health, PC -	Oklahoma City	Oklahoma
United States	Nemours Children's Hospital	Orlando	Florida
United States	Translational Research Inst. for Metabolism and Diabetes	Orlando	Florida
United States	Palm Harbor Medical Associates - BTC - PPDS	Palm Harbor	Florida
United States	Synexus Clinical Research US, Inc. - St. Petersburg	Pinellas Park	Florida
United States	Maine Medical Partners Pediatric Specialty Care	Portland	Maine
United States	University of Utah, Department of Surgery	Salt Lake City	Utah
United States	Synexus Clinical Research US, Inc. - San Antonio	San Antonio	Texas
United States	Seattle Children's Hospital	Seattle	Washington
United States	Baystate Children's Hospital, Division of Pediatric Endocrinology	Springfield	Massachusetts
United States	Tucson Neuroscience Research - M3 Wake Research	Tucson	Arizona
United States	Children's National Medical Center	Washington	District of Columbia
United States	Nemours Foundation Alfred Dupont Children's Hospital	Wilmington	Delaware

Sponsors (1)

Lead Sponsor	Collaborator
Rhythm Pharmaceuticals, Inc.

Countries where clinical trial is conducted

United States,  Canada,  Germany,  Greece,  Israel,  Italy,  Portugal, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of individuals with POMC, LepR or PCSK1 genetic mutations		1 Year