Newswise — ST. LOUIS – Ultragenyx, a biopharmaceutical company focused on the development of novel products for rare and ultra-rare diseases, is funding the efforts of a team of Saint Louis scientists led by Fran Sverdrup, Ph.D., to develop a treatment for his daughter’s muscular dystrophy.

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.

Sverdrup 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.”

About Saint Louis University’s Center for World Health and Medicine:The Center for World Health and Medicine at Saint Louis University is dedicated to the discovery and development of new therapies for rare and neglected diseases, many of which afflict children, the poor and the underserved. The Center is comprised of a multi-disciplined team of skilled drug development scientists, formerly employed in the pharmaceutical industry, with extensive expertise in translating discoveries made in basic science laboratories into safe and effective drugs for the patients in need of them. The Center has launched the social media campaign to support research on FSHD.

Saint Louis University is a Catholic, Jesuit institution that values academic excellence, life-changing research, compassionate health care, and a strong commitment to faith and service. Founded in 1818, the University fosters the intellectual and character development of nearly 13,000 students on campuses in St. Louis and Madrid, Spain. Building on a legacy of nearly 200 years, Saint Louis University continues to move forward with an unwavering commitment to a higher purpose, a greater good.

About Ultragenyx:Ultragenyx is a clinical-stage biopharmaceutical company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases, with a focus on serious, debilitating genetic diseases. Founded in 2010, the company has rapidly built a diverse portfolio of product candidates with the potential to address diseases for which the unmet medical need is high, the biology for treatment is clear, and for which there are no approved therapies.

The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyx's strategy is predicated upon time and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.

For more information on Ultragenyx, please visit the company's website at