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New treatment for rare genetic obesity


A new drug trial results in significant weight loss for patients with a rare genetic obesity



ICAN investigators along with German colleagues and Rhythm Pharmaceuticals have recently published Phase 2 clinical data in the New England Journal of Medicine detailing how a new therapy in two patients with rare genetic severe obesity enabled substantial and sustained weight loss over 12 weeks.

These two patients belong to a very small group of people worldwide to harbor mutations in the gene encoding proopiomelanocortin (POMC), a hormone important in regulating the feeling of fullness and energy expenditure. POMC genetic obesity causes permanent hunger resulting in severe obesity from a very early age, and for which there is no effective remedy. This new therapy is able to correctly stimulate the malfunctioning hormone pathway, generating appropriate sensations of fullness and satiety. The first 21-year-old patient weighed 155 kg before the study (with a BMI of 49.8) and lost 51.0 kg, or 33% of her original bodyweight for a current BMI of 33.4, following treatment with the new drug for 42 weeks. Patient 2 has only received the medication for 12 weeks, and has thus far lost 13% of her original starting weight, with predicted future sustained loss with continuing administration.

For Professor Karine Clément, this drug has also had an enormous impact on individual patient wellbeing, “This innovative treatment is such a relief for these patients, whose weight has been so difficult to control due to this genetic disease”.

In summary, the new drug setmelanotide reversed the permanent hunger pangs in the two POMC-deficient patients, resulting in significant sustained weight loss. This therapy shows promise for use in patients with other genetic defects in the leptin-melanocortin pathway, for which no treatment currently exists. Additionally, patients with Prader-Willi syndrome (another genetic obesity) may respond to this novel therapy and several such patients are being enrolled in a Phase 2 clinical trial.



Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist
Peter Kühnen, Karine Clément, Susanna Wiegand, Oliver Blankenstein, Keith Gottesdiener, Lea L. Martini, Knut Mai, Ulrike Blume-Peytavi, Annette Grüters, Heiko Krude.
New England Journal of Medicine, 21 Juillet 2016
Doi: 10.1056/NEJMoa1512693


Research contact

Karine Clément
ICAN Institute of Cardiometabolism and Nutrition
L’Hôpital Pitié-Salpêtrière
01 42 17 79 28


ICAN Institute contact

Rachel Peat


Image credit da Silva Parreira