Wednesday, April 25, 2012

What is GAN?

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.

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