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. 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
18 | F LO R I DA P HYS I C IAN
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.”
“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.”
— BARRY J. BYRNE, MD, PHD
DIRECTOR, UF POWELL GENE THERAPY CENTER
PROFESSOR OF PEDIATRICS