aren Wright worked her way through the small gathering outside her 4-month-old daughter’s room in pediatric intensive care. It seemed to her as if everyone at UF Health Shands Children’s Hospital had come to witness this historic moment.

Wright, nervous but thrilled, told a nurse, “I think I’m going to cry.”

Near her, a pharmacist delicately held a clear bag containing a plastic syringe. Syringes deliver drugs. But to Wright, this one would do so much more. It would give her daughter, Londyn, the hope of a full, happy life. The pharmacist handed the bag to a nurse who took it into the room, where cartoons danced on a TV screen.

Wright leaned down and whispered to her baby, “This drug is going to save your life.”

In June, Londyn became the first baby in the country treated with a newly approved gene therapy for a rare and debilitating neuromuscular disease since it won federal approval in May. UF Health doctors intravenously infused the girl with Zolgensma during an hourlong procedure to treat her spinal muscular atrophy, or SMA, a rare and deadly disorder that affects the ability to walk, eat and breathe. Untreated, most babies die before reaching their first birthday.

Two researchers from the UF College of Medicine — Nicholas Muzyczka, PhD, and Kenneth Berns, MD, PhD — performed groundbreaking work in the 1980s on adeno-associated virus, or AAV, that made Londyn’s treatment possible, said Barry J. Byrne, MD, PhD, who led Londyn’s treatment team (read comments from three former trainees on UF’s role in advancing the potential of gene therapy as a treatment for some of the most intractable diseases). It is the second time in recent years that techniques pioneered at UF have led to new gene therapies. In December 2017, a therapy developed in part by UF College of Medicine ophthalmology researcher William Hauswirth, PhD, won federal regulators’ approval to treat a genetic form of vision loss known as Leber congenital amaurosis type 2.

“This is very exciting,” said Byrne, director of the UF Powell Gene Therapy Center and a professor of pediatrics in the UF College of Medicine. “As a pediatrician, I’m particularly grateful to see things we’ve been working on in the lab for many years impacting pediatric care. And pediatricians of the future will
be able to use this therapy without having to deliver such bad news to the families of these wonderful children.”

The U.S. Food and Drug Administration approved Zolgensma on May 24 to treat SMA, the leading genetic cause of infant death. It works by using the small, harmless virus AAV to deliver functional copies of a gene that is mutated or missing in SMA patients. A dysfunctional gene, known as survival motor neuron 1, causes nerve cells to malfunction and die. That leads to chronic and often fatal muscle weakness.

“When I found out it was SMA, I thought I was going to lose my baby,” Wright said. “Now, who knows what the future holds? That is still unpredictable. But I think she’s going to be a normal little baby, running around, fighting with her brothers.”

UF Health’s role in delivering the treatment exemplifies its commitment to world-class patient care and pioneering work on gene therapies, said David R. Nelson, MD, senior vice president for health affairs at UF and president of UF Health.

“Our devotion to patient care and expertise in gene therapy and other scientific research is an exceptional combination of capabilities,” Nelson said. “It is extremely gratifying that patients who need complex treatments put their trust in UF Health.”

Londyn received the gene therapy June 7, and as the Zolgensma flowed into her body, her mother, wearing a protective gown and mask, offered her baby reassuring words.

“I was just telling her that this is going to help you,” Wright said. “You’re not going to be hooked up to these machines forever. This is all temporary and you’re going to have a good life. This drug is going to save you. And I love you so very much.”