Philadelphia Scientist With Rare, Fatal Disease Tried an Experimental Treatment on Himself. It Worked

A scientist from Philadelphia with a rare and fatal disease went into remission after using an experimental treatment on himself. David C. Fajgenbaum, from the University of Pennsylvania School of Medicine, was diagnosed with Castleman disease in 2010. After failing to respond to traditional treatment, he took matters into his own hands.

Castleman disease is a rare inflammatory disorder that affects about one in 5,000 Americans. It can emerge at any age and the severity varies—in some people it can just be an abnormal lymph node that causes flu-like symptoms, while in others—like Fajgenbaum—it can be far worse, affecting multiple lymph nodes and organs.

In the most severe cases, known as idiopathic multicentric Castleman disease (iMCD), the disorder presents itself with symptoms similar to cancer. One-third of people with iMCD die within five years.

In 2014, the U.S. Food and Drugs Administration (FDA) approved the drug siltuximab to treat iMCD as it was found to send people suffering from the disorder into remission in between a third and half of cases. For the rest of those suffering, few treatment options are available. "Patients who don't respond to siltuximab have limited options. They typically receive chemotherapy but often relapse," Fajgenbaum said in a statement.

After researching his own condition, Fajgenbaum realized another, already existing drug could help. With the help of his physician Thomas S. Uldrick, he looked at therapies that targeted a specific pathway—PI3K/Akt/mTOR—finding a drug that already existed, called sirolimus.

"I decided to treat myself because I had failed to respond to any drugs that had ever been tried in iMCD," he told Newsweek. "I was having deadly relapses every six to 12 months and chemotherapy was saving my life, but nothing could prevent relapses.

"The research studies I had performed in my lab suggested to me that a drug that had never been used before for iMCD may work for me."

He said there were many risks involved—it could have triggered a deadly relapse—and he was not confident it would work. "But there were no other promising leads," he said.

A study published in the Journal of Clinical Investigation shows how Fajgenbaum—along with two other patients—went into sustained remission.

These findings are preliminary. The team has now started a clinical trial to test sirolimus on 24 patients with iMCD. Participants will be given the drug every day for a year. Results are expected in 2022.

Sirolimus, according to WebMD, is an immunosuppressant that helps to prevent organ rejection after a kidney transplant. It weakens the immune system to help the body accept the new, foreign organ. It can also be used to treat the rare lung disease lymphangioleiomyomatosis-LAM—a condition where smooth muscle cells grow throughout the lungs, lymphatics, pulmonary blood vessels and pleurae.

Fajgenbaum said sirolimus currently costs about $16,000 per year for kidney transplant rejection prevention. Should it prove effective for iMCD, the cost would be the same.

He said the research shows the importance of looking at drugs already approved by the FDA to treat rare diseases.

However, he also warned people should not use experimental treatments on themselves. "In my case, there were no other options, I had generated promising data in my lab to suggest that the drug may work, I consulted extensively with my physicians, the drug was already FDA approved for kidney transplantation—it just hadn't been used for iMCD before—and there was over 25 years worth of safety data on this drug."

Fajgenbaum has written a book about his experience, Chasing My Cure: A Doctor's Race to Turn Hope Into Action, which will be released on September 10.

Dr. Fajgenbaum
David C. Fajgenbaum, who went into remission after trying experimental treatment on himself. Penn Medicine