Identifying Variants in MC4R Pathway-Associated Obesity With Novel Hyperphagia Questionnaires

Overview

About this study

The purpose of this study is to assess the ability of the hyperphagia questionnaires to identify children and young adults with early-onset obesity for genetic testing to identify variants in 36 genes of interest associated with MC4R pathway genetic obesity

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Patients who are or will be included in POWER registry.
  • Patients aged 6 to 26 years at time of recruitment for the current study.
  • Patients who satisfy the criteria for early-onset obesity:
    • Criteria to identify early-onset obesity among patients aged 6 to 26 years will be consistent with the criteria used for the Uncovering Rare Obesity® Program, as follows:
      • For patients aged 6 to 18 years at study recruitment::
      • The patient’s body mass index (BMI) is ≥ 97th percentile at recruitment based on the Centers for Disease Control (CDC) charts, and;
      • The patient has early-onset obesity.
      • Early-onset obesity will be determined based on historical records of weight, height, age, and gender in the electronic medical record or patient chart using the following definitions:
      • Historical measurements from age < 2 years: sex-specific weight for recumbent length is ≥ 97.7th percentile on the World Health Organization (WHO) charts.
      • Historical measurements from age 2-5 years: BMI ≥97th percentile based on the CDC charts.
      • Only patients with verified weight and height information before the age of 6 years and who meet the criteria of early-onset obesity will be included in the study. For new patients without available measurements to confirm early-onset obesity (electronic medical record, patient chart and/or POWER data), at least 1 weight and height measurement prior to the age of 6 years will be obtained by the study investigator at each participating site (either from the electronic medical record or from the patient’s primary care provider).
      • For patients aged ≥ 18 years at study recruitment:
      • The patient’s BMI is ≥ 40 kg/m^2 at recruitment AND
      • The patient has early-onset obesity (as defined above), as documented in the electronic medical record or patient chart.

Exclusion Criteria: 

  • Patients with prior testing for variants in the 36 genes of interest.
  • Patients who have any of the following potential causes of secondary obesity:
    • Endocrine diagnoses (e.g., hypothyroidism, Cushing syndrome, growth hormone [GH] deficiency);
    • Neurologic diagnoses.;
    • Intracranial injury (including, but not limited to: tumor, trauma, surgery, pituitary resection, irradiation);
    • Hypothalamic obesity;
    • Medication-induced weight gain, as determined by the Investigator.

Eligibility last updated 8/31/22. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Seema Kumar, M.D.

Closed for enrollment

Contact information:

Katrina Olson CCRP

(507) 266-1078

Pierce.Katrina@mayo.edu

More information

Publications

Publications are currently not available