We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
Try the New Site
We're building a modernized ClinicalTrials.gov! Visit Beta.ClinicalTrials.gov to try the new functionality.
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02849977
Recruitment Status : Completed
First Posted : July 29, 2016
Last Update Posted : November 15, 2022
Sponsor:
Information provided by (Responsible Party):
Rhythm Pharmaceuticals, Inc.

Study Description
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Brief 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.


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

Study Design
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Layout table for study information
Study Type : Observational
Actual Enrollment : 5966 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Genetic Testing and Phenotypic Characterization of Severely Obese Pediatric and Adult Volunteers
Actual Study Start Date : September 28, 2016
Actual Primary Completion Date : June 9, 2020
Actual Study Completion Date : June 9, 2020

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Genetic Testing

Groups and Cohorts
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Group/Cohort
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).


Outcome Measures
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :
  1. Identification of individuals with POMC, LepR or PCSK1 genetic mutations [ Time Frame: 1 Year ]

Eligibility Criteria
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

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
Contacts and Locations
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02849977


Locations
Show Show 58 study locations
Sponsors and Collaborators
Rhythm Pharmaceuticals, Inc.
Investigators
Layout table for investigator information
Study Chair: David Meeker Rhythm Pharmceuticals, Inc.
More Information
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Layout table for additonal information
Responsible Party: Rhythm Pharmaceuticals, Inc.
ClinicalTrials.gov Identifier: NCT02849977    
Other Study ID Numbers: RM-493-013
First Posted: July 29, 2016    Key Record Dates
Last Update Posted: November 15, 2022
Last Verified: November 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Rhythm Pharmaceuticals, Inc.:
POMC
PCSK1
Pro-opiomelanocortin