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At this Cambridge biotech, workers are tested to understand patients’ diet experience

Biotech companies developing drugs for rare diseases often invite patients to visit so workers can put a human face on illnesses that could be viewed as abstract scientific puzzles.

Akcea Therapeutics is taking that idea further — it wants staffers to get a taste of life with a super-rare metabolic disorder. An actual taste.

The Cambridge startup has encouraged its 80 employees to follow a spartan diet that includes almost no fat or simple carbohydrates — and not a drop of alcohol — from December 11 to 15, to help them understand the challenges of mealtime for people with Familial Chylomicronemia Syndrome.


The disease, which even many doctors haven’t heard of, is believed to affect about 3,000 to 5,000 people worldwide, including 1,500 in the United States, said company officials. People with FCS are unable to metabolize triglycerides properly, a gravely serious problem. Just one tablespoon of olive oil or a schmear of cream cheese can put patients over their recommended daily limit of 10 grams of fat. If they exceed that cap, they risk a potentially life-threatening bout of pancreatitis.

“It’s one thing when we hear the stories of patients,” said Paula Soteropoulos, Akcea’s chief executive. The point of the challenge is to “put themselves in the shoes of our patients,” she said, adding that a restricted diet is mild compared with what they endure. “We’re not feeling the chronic pain and the fatigue that goes along with the disease,” she said.

People with FCS often suffer from abdominal pain, fatigue, “brain fog,” and acute or chronic pancreatitis, which is frequently misdiagnosed as evidence of alcoholism. A test tube of their blood will separate to show a milky layer of fat. Severe cases of pancreatitis can lead to irreversible organ damage, even death.

Akcea, an affiliate of Ionis Pharmaceuticals Inc., of Carlsbad, Calif., has developed an experimental medicine called volanesorsen to treat the disease. It reduced high triglyceride levels in patients in a late-stage clinical trial. Akcea hopes the Food and Drug Administration and regulators in Canada and Europe will approve the medicine next year.


If it passes muster with the FDA, it will almost certainly carry a six-figure price tag in the United States, Soteropoulos said, because it would treat a disorder so rare that the federal government has deemed it an “orphan disease.”

The designation gives companies generous financial incentives to come up with treatments, including a seven-year lock on the market.

In the meantime, several Akcea employees have agreed to follow a stringent FCS diet, consuming no more than 10 grams of fat a day, about 2½ pats of butter.

They include Jim Dion, head of global training and development. Dion said he was partly motivated by a recent breakfast meeting at a Cambridge hotel that included people with the disorder.

He noticed a middle-aged woman eating a bland breakfast of egg whites, oatmeal, and black coffee — as was her husband, in a show of support.

“This disease doesn’t impact just the patient, it’s the whole family,” he said.

Dion, 52, loves Mexican food and an occasional glass of wine with dinner, but that’s off limits under the FCS diet.

Also planning to go bland is Alexa Schafer, a 29-year-old administrative assistant. She’s a foodie married to the executive chef at State Street Corporation, the financial advising firm, and likes breakfasts of scrambled eggs with sweet potatoes, avocado, and salsa. She will swap that for egg whites, a whole grain bagel, and an apple.


It’s hardly unusual for people with rare diseases to meet the scientists working on treatments or potential cures. Indeed, close relationships between patients and pharmaceutical firms have occasionally raised concerns about conflicts of interests, such as when companies donate to patient advocacy groups seeking faster FDA approval of drugs.

But patients and drug makers say such interactions also have intangible benefits.

For example, in March, Sarah Griffiths and her 6-year-old daughter, Mamie Borchert, accompanied Griffiths’s husband, Don Borchert, on a business trip to Boston.

From their hotel they saw a building bearing the Vertex Pharmaceuticals logo, which is on the packaging of the Orkambi pills Mamie had been taking for three months to treat her cystic fibrosis. When the girl asked her mom whether they could visit, Griffiths called Vertex, and an employee set it up.

The family spent two hours at Vertex’s headquarters, where employees explained how Mamie’s pink pills are made and let her wear a white lab coat and safety goggles — and play Pac Man in a game room.

“It was a very powerful experience,” said Griffiths, of Falmouth, Maine. “Every person in that building was working toward a cure for my kid’s disease.”

Several officials in the state’s booming biotech industry couldn’t come up with a parallel to the Akcea effort, which also includes a webinar on Dec. 12 and 15 for FCS patients to learn more about maintaining a healthy diet during the holiday season.


Nicole McCoy, a resident of suburban Charlotte, N.C., who has been hospitalized 34 times with pancreatitis over the past 15 years because of FCS, was delighted that employees will get a better appreciation for her diet. McCoy has sometimes subsisted on pureed vegetables, but even that unappetizing diet hasn’t always prevented her from developing pancreatitis.

“If you go out or go to someone’s home, it’s very difficult,’’ said McCoy, 46, who also has diabetes. “I can’t just pull in the drive-through and order what I want.”

Jonathan Saltzman can be reached at jsaltzman@globe.com.