Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist

N Engl J Med. 2016 Jul 21;375(3):240-6. doi: 10.1056/NEJMoa1512693.

Abstract

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).

Publication types

  • Clinical Trial, Phase II

MeSH terms

  • Adult
  • Blood Pressure
  • Female
  • Humans
  • Hyperphagia / drug therapy*
  • Hyperphagia / genetics
  • Metabolism, Inborn Errors / drug therapy*
  • Metabolism, Inborn Errors / genetics
  • Obesity / drug therapy*
  • Obesity / genetics
  • Phenotype
  • Pilot Projects
  • Pro-Opiomelanocortin / deficiency*
  • Pro-Opiomelanocortin / genetics
  • Receptor, Melanocortin, Type 4 / agonists*
  • Young Adult
  • alpha-MSH / adverse effects
  • alpha-MSH / analogs & derivatives*
  • alpha-MSH / therapeutic use

Substances

  • MC4R protein, human
  • Receptor, Melanocortin, Type 4
  • setmelanotide
  • alpha-MSH
  • Pro-Opiomelanocortin