For Patients and Caregivers:

Survey to Determine the Prevalence of
POMC Deficiency and LEPR Deficiency Obesity

We invite you to participate in a survey of people with obesity who may have signs and symptoms of POMC (pro-opiomelanocortin) or LEPR (leptin receptor) deficiency—two rare but important types of genetic, early-onset obesity.

The goal of this survey to estimate the number of people who have the signs and symptoms of these genetic disorders. The information gathered through this effort will be used to develop educational programs about genetic obesity, and to register people who may be interested in future genotyping studies or clinical trials.

POMC deficiency obesity and LEPR deficiency obesity are exceptionally rare. We believe, however, that the prevalence of these disorders is underestimated. It is our hope that through more careful study, we will gain a better understanding of the true prevalence of POMC and LEPR deficiency obesity and the spectrum of their clinical presentations, thus allowing for earlier diagnosis and more targeted medical management.

Recent studies suggest that POMC and LEPR deficiency obesity are distinct syndromes that may be clinically identifiable and uniquely responsive to therapies aimed at the underlying POMC and LEPR genetic defect. Thus, this survey also has the potential for identifying children and adults who might benefit from ongoing research into these conditions.

POMC deficiency obesity is characterized by:

  • Severe, early-onset obesity that continues throughout the first year of life
  • Hyperphagia—an unusual increase in appetite
  • Adrenal insufficiency based on adrenocorticotropic hormone (ACTH) deficiency
  • Red hair and Fitzpatrick type 1 skin, which burns but never tans (common, but not necessary)

Sometimes, central hypothyroidism from thyroid stimulating hormone (TSH) deficiency, adolescent-onset growth hormone (GH) deficiency, and adolescent-onset hypogonadotrophic hypogonadism from follicle-stimulating hormone (FSH) deficiency can also be seen in POMC patients.1

LEPR deficiency obesity is also recognized by severe, early-onset obesity and hyperphagia. In addition, patients with two genes with this mutation have poor pubertal development and their secretion of growth hormone and thyrotropin is reduced.

Thank you in advance for taking the time to fill out this survey.

Complete the Patient Survey >

If you have any questions, please do not hesitate to contact us:
E | info@geneticobesity.com

1 Challis BG, Millington GWM. Proopiomelanocortin Deficiency. GeneReviews. December 13, 2013.

This program is supported by Rhythm, a Boston-based biopharmaceutical company developing the MC4R peptide agonist, setmelanotide (RM-493), for obesity caused by genetic deficiencies in the MC4 pathway.
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