Fran Sverdrup, Ph.D., a Saint Louis University scientist, has studied FSHD, the disease his daughter has, since she was diagnosed in 2011.

Pharma Company Funds Saint Louis University Researcher’s Quest to Treat His Daughter’s Disease

A team of Saint Louis University scientists led by Fran Sverdrup, Ph.D., developing a treatment for his daughter’s muscular dystrophy, has new funding for their research, thanks in part to a California-based biopharmaceutical company named Ultragenyx, which is focused on the development of novel products for rare and ultra-rare diseases.

SLU’s Center for World Health and Medicine, has entered into a three-year collaboration to advance a potential treatment identified by Sverdrup for Facioscapulohumeral Muscular Dystrophy (FSHD), a disease that causes muscle degeneration in 15,000 or more people in the U.S.

Sverdrup’s daughter was diagnosed with FSHD in 2011, one year after he joined the Center for World Health and Medicine, an initiative launched by SLU to develop new therapies for rare and neglected diseases.  He immediately began a relentless search for treatments, and learned that no therapies were available. However, as a scientist at a drug discovery center, he had access to the tools and skills needed to make a difference.

“When my daughter was diagnosed with FSHD, I realized I had the opportunity to jump in and do something about it. The very mission of the center allowed me to start a new research project, a project aimed at finding a therapy for my own daughter,” said Sverdrup, a research fellow at the center.

“I was in the right place, with a talented group of researchers, very passionate individuals, who wanted to take up that cause with me.”

In 2012, Sverdrup discovered a class of compounds that appears to turn off the toxic gene that is inappropriately expressed in FSHD muscle cells, which could correct the defect.

Four years later, SLU and Ultragenyx inked an agreement that has the potential of taking Sverdrup’s discoveries to the next level – the development of a treatment for FSHD.

“My daughter is a very smart, very beautiful girl with a rewarding life in front of her. I want to do everything I can to make certain that happens,” Sverdrup said.

Emil Kakkis, M.D., Ph.D., CEO and president of Ultragenyx Pharmaceuticals, said his San Francisco Bay Area company is motivated to help those who have FSHD.

“SLU has a great start scientifically and we’re excited to begin a robust collaboration to bring forward what we hope will be the first treatment for this debilitating and progressive disease,” Kakkis said.

Ultragenyx will fund the process of turning SLU’s initial discoveries into a drug that could demonstrate proof-of-concept. If successful, Ultragenyx will then conduct human clinical trials to test the safety and effectiveness of the new therapy.

“By combining our center’s specialized drug development capabilities with the rare disease expertise of Ultragenyx, I’m optimistic our collaboration will increase the chances of delivering an effective therapy to patients with FSHD,” said Pete Ruminski, executive director for SLU’s Center for World Health and Medicine.

Because a therapy for FSHD would be considered an orphan drug, a designation of medications developed for rare diseases, it could be eligible for expedited reviews and potentially fast-tracked through the clinical trial process by the Food and Drug Administration, which approves all new medications, he added.

Sverdrup is eager to take the next steps on his project.

“I’m thrilled that we have a committed partner who is intent on driving this forward as quickly as possible, to get this into the clinic,” Sverdrup said.

“Our goal is to develop the first therapy for all patients with this disease, including my daughter. This is an important step in a long, often difficult process, certainly a great milestone in our efforts to bring a therapy forward.”


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