AUBURN, Ala., May 17, 2019 /PRNewswire/ -- The first
clinical trial of a gene therapy treatment created through a
research alliance between Auburn
University and the University of
Massachusetts has been administered in a child at the
National Institutes of Health, or NIH, in Bethesda, Maryland.
The NIH clinical trial is a significant milestone for GM1
gangliosidosis, a deadly disease with no approved treatment. The
clinical trial treatment was originated and created at Auburn University's College of Veterinary Medicine,
where scientists for several decades have researched treatments to
improve and extend the lives of cats affected by GM1
gangliosidosis.
The research alliance team of Dr. Doug
Martin, professor in the Department of Anatomy, Physiology
and Pharmacology in Auburn's College of
Veterinary Medicine and the Scott-Ritchey Research Center,
along with University of Massachusetts Medical
School researchers Drs. Miguel
Sena-Esteves and Heather
Gray-Edwards, have worked collaboratively for nearly 19
years, combining animal and human medicine studies to cure rare
diseases that affect both animals and humans.
In December 2018, the gene therapy
product was licensed to Axovant Gene Therapies Ltd. (Nasdaq: AXGT),
a clinical-stage company developing innovative gene therapies.
The first patient received the treatment of AXO-AAV-GM1 (also
known as AAV9-GLB1), an investigational gene therapy for the
treatment of GM1 gangliosidosis at the NIH by Dr. Cynthia Tifft, deputy clinical director at the
National Human Genome Research Institute and a leading expert in
ganglioside storage disorders.
To date, the 10-year-old patient has experienced no
complications related to the intravenous administration of the
vector and continues to be followed by physicians. The NIH has
released protocol to treat additional children under the clinical
trial; more information can be found online.
"GM1 gangliosidosis is a devastating disease in young children,
for which there are no currently approved treatment options. The
development of a safe and effective gene therapy for these patients
would be a welcome advancement in the field of pediatric lysosomal
storage disorders affecting the brain," Tifft said.
"Treating the first GM1 patient with gene therapy is a huge
milestone resulting from a long collaboration between Auburn, NIH
and UMass Medical School," Martin
said. "Seeing all of the effort come together to help
patients who have no treatment options today gives me a
lot of hope."
Martin was at the NIH earlier this month to watch the child
receive the treatment. "The treatment is a testament to one
parent's refusal to give up, but speaks to the thousands of family
members who have searched for a cure for this disease. The families
have been the motivation of our research."
He said being at the NIH to watch the treatment was a pinnacle
moment in his life, professionally and personally. "This treatment
is extremely promising because it has worked well in GM1 mice
and cats, and it is delivered by a single IV injection that takes
less than an hour. We're hopeful that the treatment makes a real
difference for patients and their families."
"As the trial progresses and more patients are treated, we'll
have a good idea of whether the gene therapy helps children as much
as it has helped the animals. This is certainly what we're hoping
for."
For Opelika, Alabama, residents
Sara and Michael Heatherly, whose
son Porter was the first known case of GM1 in Alabama and died in 2016, the knowledge of a
treatment is one of mixed emotions.
"We are excited to know there is hope for the future of children
diagnosed with GM1," Michael
Heatherly said. "We are thankful for everyone who has
dedicated their time, resources and careers to move this treatment
forward and to Axovant for bringing all of their work to life and
making it a reality for GM1 patients."
The Heatherlys spoke at an Auburn GM1 conference in March with
other families who have loved ones affected by the disease,
remembering the "horrifying" diagnosis in 2012. "But we found out
about the research at Auburn, and it gave us hope," Michael Heatherly said.
"As Auburn graduates, Sara and I were always a part of the
Auburn Family, but through this research, we've developed an even
greater family within the College of Veterinary Medicine
community.
"We understood early on the research would not help Porter; but
we wanted to help spread the word of the research and the progress
that was being made." The Heatherlys gave Auburn researchers a
reason to hope, and work harder for a cure. To honor the family,
which held fundraisers for several years to support the research,
the Scott-Ritchey Research Center incorporated Porter's likeness in
a creative identity for the center.
Spring Auburn graduate
Cassie Bebout also has a personal
connection to the research at Auburn, where she worked in Martin's
lab. When she was 6 years old, her 9-year-old brother Jake died
from GM1. The molecular biology major devoted her college career to
helping find a possible cure for the disease. Her story is
chronicled on Auburn's website.
About GM1
GM1 gangliosidosis is a progressive and
fatal pediatric lysosomal storage disorder caused by mutations in
the GLB1 gene leading to impaired production of the
beta-galactosidase enzyme. There are currently no approved
treatments for GM1 gangliosidosis.
About AXO-AAV-GM1
AXO-AAV-GM1 delivers a functional
copy of the GLB1 gene via an adeno-associated viral (AAV) vector,
with the goal of restoring β-galactosidase enzyme activity for the
treatment of GM1 gangliosidosis. The gene therapy is delivered
intravenously, which has the potential to broadly transduce the
central nervous system and treat peripheral manifestations of the
disease as well. Preclinical studies in murine and a
naturally-occurring feline model of GM1 gangliosidosis have
supported AXO-AAV-GM1's ability to improve β-galactosidase enzyme
activity, reduce GM1 ganglioside accumulation, improve
neuromuscular function and extend survival.
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SOURCE Auburn University