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Melanocortin 4 Receptor Mutations and Obesity-associated Diseases

Mutations in the Melanocortin 4 Receptor and Obesity-associated Diseases

Status
Completed
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT01849705
Acronym
Mc4Obes
Enrollment
226
Registered
2013-05-08
Start date
2012-10-31
Completion date
2013-02-28
Last updated
2013-05-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Obesity

Keywords

Obesity, MC4R, Blood pressure, Blood glucose

Brief summary

Mutations in the melanocortin 4 receptor (MC4R) are the most common form of monogenic obesity, and can explain 2-6% of severe obesity. Studies have shown that mutations in MC4R are associated with increased fat mass, height-for-age, appetite and insulin resistance among children. In adults, mutations in MC4R are less penetrant for these phenotypes but it has been observed that individuals with MC4R mutations have a smaller than expected blood pressure for their degree of obesity. The purpose of this study is to explore the association between functional MC4R mutations and obesity, insulin resistance and blood pressure.

Interventions

OTHERNo intervention

Sponsors

Rhythm Pharmaceuticals, Inc.
CollaboratorINDUSTRY
University of Copenhagen
Lead SponsorOTHER

Study design

Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL

Eligibility

Sex/Gender
ALL
Age
18 Years to 70 Years
Healthy volunteers
Yes

Inclusion criteria

* Age 18-70 years * Men and women * BMI \> 30 kg/m\^2

Exclusion criteria

* Uncontrolled type 2 diabetes * Bariatric surgery * Use of anti-obesity medication

Design outcomes

Primary

MeasureTime frameDescription
Blood pressureBaselineSystolic and diastolic blood pressure

Secondary

MeasureTime frameDescription
ObesityBaselineObesity measured as BMI
Blood glucoseBaselineBlood glucose measured at baseline
MC4R mutationsBaselineMC4R mutations detected by sequencing of the coding region of the MC4R gene

Countries

Denmark

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026