What
is GAN?
Giant
Axonal Neruopathy
Giant axonal neuropathy is an inherited
condition involving dysfunction of a specific type of protein in nerve cells
(neurons). The protein is essential for normal nerve function because it forms
neurofilaments. Neurofilaments make up
a structural
framework that helps to define the shape and size of the neurons. This
condition is characterized by abnormally large and dysfunctional axons, which
are the specialized extensions of nerve cells that are required for the
transmission of nerve impulses.
Giant axonal
neuropathy generally appears in early childhood. It progresses slowly as
neuronal injury becomes more severe. Signs of giant axonal neuropathy usually
begin in the peripheral nervous system, which governs movement and sensation in
the arms, legs, and other parts of the body. Most individuals with this
disorder first have problems with walking. Later they may lose sensation,
coordination, strength, and reflexes in their limbs. Hearing and visual problems
may also occur. Extremely kinky hair (as compared to others in the family) is
characteristic of giant axonal neuropathy.
How do people inherit giant axonal
neuropathy?
This
condition is inherited in an autosomal recessive pattern, which means both copies
of the gene in each cell have mutations. The parents of an individual with an
autosomal recessive condition each carry one copy of the mutated gene, but they
typically do not show signs and symptoms of the condition.
Currently, there is no cure for GAN. As the disorder progresses, patients become
quadriplegics, dependent on a feeding tube and ventilator. These children who
are diagnosed with the disease have a life expectancy no longer than their
early twenties while some die much younger.
The
mission of Hannah’s Hope Fund is to raise funds for a treatment and cure of
GAN. Lori and Matt Sames co-founded HHF
following the diagnosis of their youngest daughter, Hannah, in March of
2008. At the time of Hannah’s diagnosis,
Lori was only able to find one scientist in the world actively studying GAN,
Dr. Pascale Bomont, in France. Dr.
Yanmin Yang, Stanford University, had studied GAN, but her NIH and MDA grants
ran out in 2006.
In August of 2008, HHF brought 20 research
scientists together in Boston for the first ever symposium on GAN. The goals of this meeting was to discuss
everything known about GAN, and prioritizes therapeutic approaches, as well as
prioritize basic research studies needed to learn more about underlying disease
mechanisms. Gene therapy was prioritized
as the #1 therapeutic approaches coming out of this meeting.
Dr.
Jude Samulski, Director of the University of North Carolina (UNC) at Chapel
Hill Gene Therapy Center, sent research associate, Dr. Steven Gray to the
symposium to assess whether or not gene therapy was a viable approach for
GAN. HHF began funding Dr. Gray’s work
on GAN Oct. 1, 2008. Due to the efforts of Dr. Gray, utilizing more than 25
years of experience obtained at the UNC Gene Therapy Center, there is now a
gene therapy approach for GAN.
On Jan. 26th, 2012, HHF and the UNC
clinical team had a Pre Investigational New Drug (Pre IND) meeting with the
FDA, and with their guidance, we now have a clear path forward to a GAN gene
therapy clinical trial. The GAN disease
community will likely be the first disease community to receive a therapeutic
gene to the spinal cord. The goal is to
stop disease progression. Gene therapy will not reverse cell death, so it’s
critical these kids receive treatment ASAP.
Every clinical trial is a human experiment. It will not be known if gene therapy will be
an effective treatment for GAN until our clinical trial(s) end.
Through grass-roots fundraising, Hannah’s Hope Fund has had to bear the
burden of funding the gene therapy project and a FDA required Natural History Study
to track the natural progression of the disease as well as show efficacy of the
IND. HHF, primarily a family and
volunteer driven charity, is working tirelessly to move all the children
suffering from GAN one step closer to receiving a treatment that will stop the
progression of this disease and ultimately save their lives. We are deeply
appreciative of our loyal supporters who have made all of this possible.
