For Healthcare Professionals:

Register your confirmed POMC- and LepR-deficient patients

We invite you to register your patients that have genetically confirmed POMC (pro-opiomelanocortin) or LepR (leptin receptor) deficiency—two rare but important types of genetic, early-onset obesity. The goals of the Genetic Obesity ID | Patient Registration are to:

  • Gain a more accurate and reliable assessment of the worldwide prevalence of obesity resulting in POMC and LepR deficiency
  • Increase understanding of disease impact and progression

Rhythm is collaborating with healthcare providers to develop this international database to support the needs of patients and their healthcare providers.

To register your patients, please complete the following questionnaire/survey that aims to determine the demographic characteristics of patients you have seen in your practice who have a genetically confirmed diagnosis of POMC- or LEPR-deficiency obesity—specifically, the presence of biallelic, pathogenic variants of either the POMC or PCSK1 genes; or the LepR gene.

We will be expanding this registry in coming months with a Patient Reported Questionnaire designed to compile information on the natural history of these genetic disorders. We will keep you apprised as we expand the questionnaire, which will further enhance the understanding of these important life-threatening disorders of obesity.

The GO-ID Genotyping Study is supported by a grant from Rhythm Pharmaceuticals, Inc. The content on this site is intended for use by patients, caregivers, and healthcare professionals for informational purposes only and is not intended to be taken as medical advice.
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