specify when that might happen.
POMC affects fewer than 500 patients worldwide, according to Rhythm. Though Prader-Willi is also rare, it’s much more common by comparison, affecting about one in every 12,000 to 15,000 newborns, according to the Prader-Willi Syndrome Association.
Patients with POMC deficiency are typically born at a normal weight, but because of their hyperphagia, they’re often obese by the age of 1. They can also suffer low blood-sugar levels leading to seizures, among other problems, according to the NIH.
People with Prader-Willi have low muscle tone, a slow metabolism, and an insatiable hunger. If left alone, they might raid the cabinets, fridge, or trash to steal food, and it isn’t unheard of for them to eat so fast they choke to death, or rupture their esophagus or stomach.
Appetite suppressants and gastric bypass don’t work for people with Prader-Willi. While most of us might know what it’s like to feel full, these patients frequently feel what would be the worst feeling of hunger an average person has ever had, according to Gottesdiener.
Take Kate Kane, who lives in a home in Wisconsin for people suffering from Prader-Willi. To regulate her weight, she is restricted to eating 1,200 calories of food a day and must be monitored to ensure she doesn’t over-indulge. That includes during travel. Kate is currently visiting her family in Baltimore, but Jim flew to Wisconsin to pick her up. The autonomy of flying alone ended after a previous incident in which she convinced a flight attended she was in need of numerous bags of cookies because of low blood sugar from diabetes (it wasn’t true). The Kanes have to lock up their food when Kate visits to protect her.
“It totally controls and impacts her life,” Jim Kane said.
Beloranib’s fall puts more of a focus on setmelanotide and other experimental drugs in clinical testing for Prader-Willi. So far Rhythm hasn’t seen any significant safety problems in its own Prader-Willi program. Small molecule drugs that boost the activity of MC4 haven’t made it to market before in part because of an association with heart problems—namely high blood pressure, according to Rhythm. It’s worth watching whether those type of problems pop up with more patients and longer-term use of setmelanotide.
“We’re hopeful that [the drug’s progress] continues and something happens,” Jim Kane said. “If somebody can solve this—wow.”
