Drug battles rare overgrowth disease
Should be easier than injections
The overgrowth disease that famously impacted Andre the Giant can now be treated with an oral drug instead of painful injections, a breakthrough in treatment for a disease one local woman called “surreal,” to experience.
When Ellen Pelan, 60, of Harwich, visited a sleep apnea doctor for snoring issues, she was taken aback when he suggested testing her growth hormone levels, which came back very elevated.
“He told me as I was leaving, very compassionately, that he felt I really did have this rare tumor on my pituitary gland,” said Pelan. “I was kind of skeptical, to say the least.”
Pelan had noticed in photos that her lips and hands looked large and “doughy,” but just chalked it up to the aging process.
She had acromegaly, a rare disorder that impacts fewer than 20,000 people a year in the United States and can cause enlarged hands and feet, severe snoring, impaired vision, headaches and even an enlarged heart due to a tumor that forms on the pituitary gland.
In July 2014, Pelan had surgery to remove the tumor, “It was kind of like a surreal time, really,” and while the procedure was a success for her, many other people are treated for the disease with painful injections.
Now, an oral drug called Mycapssa, created by Needham-based company Chiasma, can ease the pain and inconvenience of those injections with their newly approved oral capsules that treat acromegaly. The drug received approval by the Food and Drug Administration late last month.
The capsule has a coating which allows it to go through the stomach without being degraded until it enters the intestine and is opened up to trigger a mechanism in the body that absorbs nutrients and enter the bloodstream.
Raj Kannan, chief executive officer of Chiasma, said, “We are able to deliver the drug in a very intelligent manner, taking advantage of a natural phenomenon within our gut.”
The medication works by using a hormone that binds to receptors in the tumor to decrease the amount of growth hormone or sometimes even shrink the tumor, said Dr. Susan Samson, who was the principal investigator of the Chiasma Optimal clinical trial.
“It’s really a one-of-a-kind technology to deliver a tried and true medicine that we already use for acromegaly,” said Samson.
Samson said the overgrowth changes can often sneak up on patients and delay diagnosis, so working hard to get hormone levels in check and avoid severe symptoms is important.
“To have another choice to present to (patients) is really exciting and I’m really pleased that I’ll be able to communicate this for a more personalized approach to their care,” said Samson.
Pelan is not currently on any drugs to treat acromegaly but she gets regular scans and tests to make sure growth hormone levels are in check.
“It will affect my future, I just don’t know exactly how right now and I have to stay on top of that,” said Pelan.
Mycapssa is expected to be available to patients in the fourth quarter of this year following the FDA’s approval of a manufacturing plan.
Kannan said, “Patients have waited for so long for an oral option so we are working as diligently as possible.”