Maria Siemionow: Slowing the progression of Duchenne muscular dystrophy

Maria Siemionow, professor in the Department of Orthopedics, named 2024-25 Distinguished Researcher in Clinical Sciences. (Photo: Jenny Fontaine/UIC)

As an orthopedic surgeon, Dr. Maria Siemionowhas always been interested in groundbreaking treatments. She performed the first near-total face transplant in the United States. Now, she's applying that ingenuity to Duchenne muscular dystrophy, a debilitating genetic disorder caused by a lack of the essential muscle protein dystrophin and which primarily affects males.

"At the age of 5, boys begin to have difficulty walking. By age 9 to or 10, they become wheelchair-dependent, and by 16 or 17, they become respirator-dependent," said Siemionow, a professor of orthopedics at UIC. Many patients die from related heart and lung complications in their 20s.

But a novel cell therapy Siemionow developed shows promise in slowing the progression of the disease. The treatment she created fuses a patient's own muscle stem cells with cells from a healthy donor capable of producing dystrophin.

Unlike traditional cell-based therapies, injection of these "chimeric cells" doesn't require immunosuppression. Because part of the cells come from the patient's own body, they are recognized as "self" and aren't rejected over time, a major drawback of other therapies targeting Duchenne muscular dystrophy.

"When chimeric cells are injected into the recipient, they are presented as self and accepted, so it's a bit like a Trojan horse," Siemionow said.

And while Duchenne muscular dystrophy can be caused by a variety of genetic mutations, chimeric cell therapy is universal and any patient can receive the treatment.

"Our therapy has a lot of advantages," Siemionow said.

In clinical studies conducted in Siemionow's native Poland, patients treated with chimeric cells showed improvementsin muscle strength and function.

"This is already a significant success," she said. "It means that chimeric cell therapy can delay disease progression. These boys may no longer face death at their early 20s. Their lives may be extended to 30 years or more," Siemionow said. "That's the hope behind this therapy."

In 2017, Siemionow founded the company Dystrogen Therapeutics with her son, Dr. Krzysztof Siemionow, associate professor of orthopedics in the College of Medicine. They have worked closely with UIC's Office of Technology Managementto apply for patents and develop partnerships to further advance the therapy. The university's support has been key in bringing chimeric cells from the lab to patients, Siemionow said.

"It's a very supportive environment at UIC," she said. "People here see the potential."

Next, Siemionow plans to expand the chimeric cell therapy in clinical trials in both Europe and the United States. The innovation is just one chapter in a long career dedicated to developing novel therapeutic approaches in transplant surgery, including the pioneering face transplant at the Cleveland Clinic in 2008.

"That was a challenge, but I enjoyed it because it was always based on solid science," she said. "I am always motivated by a challenge."