I wrote about Batten Disease in my last blog entry and now I would like to focus on some of the therapies that are in the works to combat it.

Finding a gene therapy for Batten Disease is personal for Dr, Tammy Kielian of U. Nebraska Medical Center (UNMC).  Her  young niece, Olivia, has Juvenile Batten Disease.  It is her niece’s beautiful smile that drives her on the path for a cure.

In June of this year, UNeMed, the commercialization office for UNMC, entered into an agreement with PlasmaTech Biopharmaceuticals.  Combined, they are working on a gene therapy that was discovered in Dr. Kielian’s lab. “Dr. Kielian said a final product might still be years away, but her lab is working on a solution that does more than just slow disease progression. ‘“Ours is a demonstration of a treatment that would correct the genetic defect,'” she said.*

“Steven Hinrichs, M.D., chair of pathology and microbiology, said the research turned on a key finding:” “Her laboratory demonstrated that expression of the therapeutic gene in only a few cells was able to benefit neighboring cells. That discovery completely changes the outlook for gene therapy in Juvenile Batten disease and makes a true therapy possible for this terrible disorder.”‘*

In a recent interview, Dr. Kielian explained a little about Batten Disease and how her approach is different.

For starters, Juvenile Batten Disease is caused by a gene mutation in the CLN3 gene.  When gene mutations are found, doctors like Dr. Kielian start looking for gene therapies to combat the mutations.  In other words, they strive to find ways to replace bad genes with good genes.

To date, there hasn’t been any therapies formed to correct this CLN3 gene mutations.  Dr. Kielian’s approach, however, would be to correct the mutated cells inside the brain as well as outside the brain. This would be done via introduction of normal cells into the mutated tissue.  Her approach is significant because in the past it has been extremely difficult to deliver drugs or healthy cells to the brain because of the blood brain barrier.  This barrier is very selective on what it allows into the brain and spinal cord via blood stream.  To understand the significance of this, scientists once injected a body with blue dye.  All tissues  within the body turned blue except for the brain and spinal cord because of this barrier’s protection.  

Dr. Kielian’s tested her AAV therapy on mice. Her mice model involved mice with the same genetic mutation as 80-85% of Batten patients. Since the disease typically presents itself between the ages of 5-8 years old, the therapy was injected into mice of equivalent age (1 month old in mice age). In this preliminary trial, mice injected with the therapy saw restoration of things such as fine motor skills in a month’s time. Most importantly, the therapy reduced some of the brain inflammation that is associated with Batten Disease.

Because of the rarity of Batten’s Disease, I suspect that this therapy is on an FDA fast track-meaning they could get the nod to go into Clinical Trial 1 faster than some other drugs looking to go into initial clinical trials.

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* http://www.unmc.edu/news.cfm?match=17111

http://finance.yahoo.com/news/spotlight-batten-disease-gene-therapy-174500852.html