We invite you to participate in two initiatives of The Genetic Obesity Project to improve diagnosis and understanding of obesity resulting from either POMC (pro-opiomelanocortin) or LEPR (leptin receptor) deficiency—two rare but important types of genetic, early-onset obesity.
You can participate in either of the following programs:
POMC deficiency obesity and LEPR deficiency obesity are exceptionally rare. We believe, however, that the prevalence of these disorders is underestimated. The goal of the Registry is to identify patients worldwide with a confirmed diagnosis of these genetic disorders, and the Genotyping Study is underway to screen people for these serious, often life-threatening, diseases. 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 gene defects (and also including PCSK1 mutations as another gene defect implicated in POMC deficiency obesity). Thus, this genotyping study also has the potential for identifying children and adults who might benefit from ongoing research into these conditions.
If you have any questions, please do not hesitate to contact us:
We look forward to hearing from you.
Karine Clément MD, PhD
Director of Institute of Cardiometabolism and Nutrition (ICAN)
INSERM/UPMC , Pitié-Salpêtrière Hospital, AP/HP
Prof. Sadaf Farooqi PhD, FRCP, FMedSci
Wellcome Trust Senior Clinical Fellow and Professor of Metabolism and Medicine
University of Cambridge Metabolic Research Laboratories
Cambridge, United Kingdom
Prof. Lee M. Kaplan, MD, PhD
Director, Obesity, Metabolism and Nutrition Institute
Massachusetts General Hospital
Boston, Massachusetts, USA
Dr. Peter Kühnen, MD
Institute of Experimental Pediatric Endocrinology
Charite Children’s Hospital
Dr. Jennifer Miller, MD
Division of Pediatric Endocrinology
University of Florida College of Medicine
Gainesville, Florida, USA
This study is supported by a grant from Rhythm, a Boston-based biopharmaceutical company developing the MC4R peptide agonist, setmelanotide (RM-493), for obesity caused by genetic deficiencies in the MC4 pathway. Two Phase 2 clinical trials of setmelanotide are underway for the treatment of rare genetic disorders of obesity, one for POMC deficiency obesity and one for Prader-Willi Syndrome.
Further information on the POMC clinical trial can be found at:
Further information on the Prader-Willi syndrome clinical trial can be found at: