UF, Orlando Health doctors target devastating genetic disease

More than a dozen internationally renowned basic and clinical scientists will convene in Orlando on Friday in an effort to create a therapy for Sanfilippo syndrome, an incurable genetic ailment that has defied all treatment efforts.

Led by the University of Florida with Orlando Health, the symposium at the Winnie Palmer Hospital for Women & Babies will involve experts from around the country who are trying to find a way to transfer lifesaving genes to people whose cells lack enzymes needed for routine maintenance.

“By conventional means this disease is not treatable, but by using a virus that most of us already have in our bodies as a delivery vehicle to give affected patients a very crucial gene, we can have an impact,” said Barry Byrne, M.D., a cardiologist in the department of pediatrics and director of UF’s Powell Gene Therapy Center. “Our objective Friday is to share the latest science and treatment strategies and move the group closer toward launching a clinical trial.”

In the body’s normal course of building bones and other connective tissue, cells continually produce and dispose of long chains of complex sugars. In people with Sanfilippo syndrome, these chains accumulate, creating toxic conditions.

Although rare — Sanfilippo syndrome strikes only about one in 70,000 children — the gene transfer technique scientists will develop may be useful for dozens of genetic disorders. At UF, an experimental gene therapy for a type of muscular dystrophy called Pompe disease is already being tested in clinical trials.

In the meantime, Haiyan Fu, Ph.D., of Nationwide Children’s Hospital recently received a significant Pepsi Challenge Grant as well as National Institutes of Health support to work toward a human clinical study of a treatment for Sanfilippo syndrome.

The conference will open Friday with a presentation by Maria Escolar, M.D., of the University of North Carolina, who will talk about clinical studies of rare diseases. Researchers from Australia and France will join the symposium via video conferencing.

The scientific meeting is sponsored by two Orlando families well-known in Florida for philanthropic and community service, including members of the Chicone family, who have supported UF, the University of Central Florida and other institutions of higher education, and the Chapin family, which includes former Orange County mayor and current Orlando Health Board Chairman Linda Chapin.

Byrne said the symposium complements the longstanding working relationship shared by UF, Orlando Health and Shands HealthCare.