Pro-opiomelanocortin (POMC), Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) and Leptin Receptor (LepR) Gene Mutations
Conditions
Keywords
POMC, PCSK1, Pro-opiomelanocortin
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.
Interventions
None listed
Sponsors
Rhythm Pharmaceuticals, Inc.
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
2 Years to No maximum
Healthy volunteers
No
Inclusion 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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of individuals with POMC, LepR or PCSK1 genetic mutations | 1 Year |
Countries
Canada, Germany, Greece, Israel, Italy, Portugal, United States
Outcome results
None listed