[HTML][HTML] Proopiomelanocortin deficiency treated with a melanocortin-4 receptor agonist

P Kühnen, K Clément, S Wiegand… - … England Journal of …, 2016 - Mass Medical Soc
P Kühnen, K Clément, S Wiegand, O Blankenstein, K Gottesdiener, LL Martini, K Mai…
New England Journal of Medicine, 2016Mass Medical Soc
Patients with rare defects in the gene encoding proopiomelanocortin (POMC) have extreme
early-onset obesity, hyperphagia, hypopigmentation, and hypocortisolism, resulting from the
lack of the proopiomelanocortin-derived peptides melanocyte-stimulating hormone and
corticotropin. In such patients, adrenal insufficiency must be treated with hydrocortisone
early in life. No effective pharmacologic treatments have been available for the hyperphagia
and obesity that characterize the condition. In this investigator-initiated, open-label study …
Patients with rare defects in the gene encoding proopiomelanocortin (POMC) have extreme early-onset obesity, hyperphagia, hypopigmentation, and hypocortisolism, resulting from the lack of the proopiomelanocortin-derived peptides melanocyte-stimulating hormone and corticotropin. In such patients, adrenal insufficiency must be treated with hydrocortisone early in life. No effective pharmacologic treatments have been available for the hyperphagia and obesity that characterize the condition. In this investigator-initiated, open-label study, two patients with proopiomelanocortin deficiency were treated with setmelanotide, a new melanocortin-4 receptor agonist. The patients had a sustainable reduction in hunger and substantial weight loss (51.0 kg after 42 weeks in Patient 1 and 20.5 kg after 12 weeks in Patient 2).
The New England Journal Of Medicine