Testing and advancing new genetic therapies toward FDA approval is the ultimate goal of scientists such as Jane Owens, a Senior Director in the Discovery Biology group at Pfizer within their Rare Disease Research Unit. Owens leads a group of scientists who work to develop medicines for patients with rare diseases that affect skeletal muscles. Although Owens and her team were not involved in developing the therapy that Fulton and Teddy Mantoan have used, they are helping develop therapies that may address the underlying cause of other genetic diseases. "Our genes contain the instructions for making proteins," Owens says. "If the cause of a genetic disease is a gene mutation that results in low levels or even none of that protein being made, we can generate a molecular construct that allows us to deliver a corrected copy of the gene to the patient, thereby replacing the missing protein," she says. This, says Owens, is the premise of many gene therapies in development — and the medicines that may be borne out of this research give hope to families like the Mantoans. "As scientists, our goal is to advance research to unlock the promise of gene therapy for patients, living with rare genetic diseases worldwide, for whom the current standard of care falls short. We're driven by the potentially transformative benefits for patients and their families," Owens said.
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Currently, Teddy (now 10) and Fulton (13) are both on a new genetic medicine for their SMA. The new medication, similar to the first, is designed to stimulate the production of the missing protein, only this time the boys take a daily oral medication rather than a lumbar puncture.
While neither of the Mantoan boys has seen dramatic changes in their condition, Kelly says that their therapy has prevented a decline — something the entire family is thankful for. "People want to know if they're doing these big grandiose things like walking, and they're not doing that. But breathing is so important, and we're grateful they haven't lost that ability."
It is important to note that all families may not have the same experience as the Mantoans. There is still much to be understood about genetic therapy. "It's not right for every patient, and the patient responses may be variable," Owens said.
Looking toward the future, the Mantoans are cautiously optimistic that genetic medicine will help the boys maintain their present quality of life.
"Prior to these [treatments], you'd have a skill, then plateau, and then your function would decline and continue to go down," she says. "Now the boys are maintaining, and they're not getting significantly weaker. We're just really happy about that."
Photo courtesy of Celine Ryan
Photo courtesy of Patrice Lee
Photo courtesy of Cynthia Kuk