Pro-opiomelanocortin (POMC), Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) and Leptin Receptor (LepR) Gene MutationsNCT02849977
Genetic Testing and Phenotypic Characterization of Severely Obese Pediatric and Adult Volunteers
An observational study of Pro-opiomelanocortin (POMC), Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) and Leptin Receptor (LepR) Gene Mutations, run by Rhythm Pharmaceuticals, Inc. at 58 sites in 7 countries.
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. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Pro-opiomelanocortin (POMC), Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) and Leptin Receptor (LepR) Gene Mutations
- How many people
- 5,966 participants
- Where
- 58 sitesin 7 countries
- Study dates
- 28 Sep 2016to 9 Jun 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
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.
- 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
Trial locations and contacts
58 sites in 7 countries.
58 sites in 7 countries
United States48 sites
Synexus Clinical Research US, Inc. - Akron
Akron, Ohio, 44311
University of New Mexico
Albuquerque, New Mexico
Texas Tech University Health Sciences Center
Amarillo, Texas, 79106
Synexus Clinical Research US, Inc. - Primary Care Associates
Anderson, South Carolina, 29621
Synexus Clinical Research US, Inc. - Simon Williamson Clinic, PC
Birmingham, Alabama, 35211
Synexus Clinical Research US, Inc. - West Florissant Internists
Bridgeton, Missouri, 63044
New York Clinical Trials-Brooklyn
Brooklyn, New York
Division of Endocrinology/Diabetes Amanda House
Buffalo, New York, 14203
Synexus Clinical Research US, Inc. - Phoenix Southeast
Chandler, Arizona, 85224
UNC Health Care - NC Children's Specialty Clinic
Chapel Hill, North Carolina, 27514-4220
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599
Synexus Clinical Research US, Inc. - Chicago
Chicago, Illinois, 60602
Synexus Clinical Research US, Inc. - Cincinnati
Cincinnati, Ohio, 45236
Nationwide Children's Hospital, Center for Healthy Weight and Nutrition
Columbus, Ohio, 43205
Synexus Clinical Research US, Inc. - Columbus
Columbus, Ohio, 43212
Synexus - Synexus US, LP - Dallas
Dallas, Texas, 75234
Global Medical Research - M3 Wake Research
DeSoto, Texas, 75115
Duke University Hospital
Durham, North Carolina, 27705
Study site
Encino, California, 91316
University of Florida
Gainesville, Florida, 32610
Helen DeVos Children's Hospital Healthy Weight Center
Grand Rapids, Michigan, 49503
South Florida Clinical Trials
Hialeah, Florida
Cohen Children's Medical Center of NY
Lake Success, New York, 11042
Impact Clinical Trials - Las Vegas
Las Vegas, Nevada
PRI, LLC - Los Alamitos - M3 Wake Research
Los Alamitos, California, 90720
Axis Clinical Trails
Los Angeles, California
Axis Clinical Trials
Los Angeles, California
University of Tennesseee Health Science Center
Memphis, Tennessee, 38103
Medical Research Center of Memphis, LLC - M3 Wake Research
Memphis, Tennessee, 38120
Clinical Research Advantage Inc.
Mesa, Arizona
Vanderbilt University
Nashville, Tennessee, 37232
NYU Langone Medical Center
New York, New York, 10016
Columbia University
New York, New York, 10032
New York Clinical Trials-Manhattan
New York, New York
PRI, LLC - Newport Beach - M3 Wake Research
Newport Beach, California, 92660
Synexus Clinical Research US, Inc. - Centennial Health, PC -
Oklahoma City, Oklahoma, 73111
Translational Research Inst. for Metabolism and Diabetes
Orlando, Florida, 32804
Nemours Children's Hospital
Orlando, Florida, 32827
Palm Harbor Medical Associates - BTC - PPDS
Palm Harbor, Florida, 34684
Synexus Clinical Research US, Inc. - St. Petersburg
Pinellas Park, Florida, 33781
Maine Medical Partners Pediatric Specialty Care
Portland, Maine, 4102
University of Utah, Department of Surgery
Salt Lake City, Utah, 84132
Synexus Clinical Research US, Inc. - San Antonio
San Antonio, Texas, 78229
Seattle Children's Hospital
Seattle, Washington, 98105
Baystate Children's Hospital, Division of Pediatric Endocrinology
Springfield, Massachusetts
Tucson Neuroscience Research - M3 Wake Research
Tucson, Arizona, 85710
Children's National Medical Center
Washington D.C., District of Columbia, 20010
Nemours Foundation Alfred Dupont Children's Hospital
Wilmington, Delaware, 19803
Israel5 sites
Rabin Medical Center - PPDS
Petah Tikva, 49100
Schneider Children's Medical Center of Israel - Petah Tikvah - PIN
Petah Tikva, 49100
Chaim Sheba Medical Center
Ramat Gan, 52621
Kaplan Medical Center
Rehovot, 76100
Tel Aviv Sourasky Medical Center
Tel Aviv, 64329
Germany1 site
Charite Campus Virchow-Klinikum Institute for Experimental Pediatric Endocrinology
Berlin
Portugal1 site
Hospital Senhora da Oliveira -Guimaraes, E.P.E
Guimarães, 4835-044
About this study
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.
- Keywords
- POMC, PCSK1, Pro-opiomelanocortin
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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). | |
| 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). | |
| 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). | |
| 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). |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of individuals with POMC, LepR or PCSK1 genetic mutations
Measured: 1 Year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jul 2016 (estimated)
- Study start28 Sep 2016
- Primary completion9 Jun 2020
- Study completion9 Jun 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pro-opiomelanocortin (POMC), Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) and Leptin Receptor (LepR) Gene MutationsStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 5,966 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rhythm Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- David Meeker, Study chair, Rhythm Pharmceuticals, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02849977
- Sponsor's protocol ID
- RM-493-013
- Status last verified
- Nov 2022
- First submitted
- 26 Jul 2016
- Last updated
- 15 Nov 2022
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Nov 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Testing and Phenotypic Characterization of Severely Obese Pediatric and Adult Volunteers
- ClinicalTrials.gov ID
- NCT02849977
- Acronym / sponsor ID
- RM-493-013
- Keywords
- POMC, PCSK1, Pro-opiomelanocortin
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5,966 participants (actual)
- Lead sponsor
- Rhythm Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- 28 Sep 2016 (actual)
- Primary completion
- 9 Jun 2020 (actual)
- Study completion
- 9 Jun 2020 (actual)
- First posted
- 29 Jul 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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). |
| 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). |
| 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). |
| 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). |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identification of individuals with POMC, LepR or PCSK1 genetic mutations
Time frame: 1 Year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Nov 2022.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
David Meeker study chair
Rhythm Pharmceuticals, Inc.
58 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pro-opiomelanocortin (POMC), Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) and Leptin Receptor (LepR) Gene Mutations, run by Rhythm Pharmaceuticals, Inc. at 58 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 15 Nov 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 58 sites in United States, Israel, Canada, Germany, Greece and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of individuals with POMC, LepR or PCSK1 genetic mutations (time frame: 1 Year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Nov 2022.