New drug treatment for rare genetic disease

A new drug has been shown to be effective in the treatment of a rare genetic disease that leads to obesity. In a paper published in NEJM, Setmelanotide was shown to induce weight loss and reduce appetite in patients with Pro-opiomelanocortin (POMC) deficiency. This extremely rare disorder, which leads to early-onset obesity and a high appetite, is caused by a defect in the MCR4 gene, and is thought to only affect 100-500 people worldwide.

Although only 2 patients were included in this trial, due to the disorders rarity, the researchers were excited by their response to setmelanotide as it highlights the importance of the MCR4 gene in weight regulation. The lead author, Dr Peter Kühnen, explains that if the continued use of the drug carries on being effective, then it could be administered in the treatment of other genetic disorders associated with obesity.