Rochester researchers have discovered a new drug therapy for a rare, fatal disease in children. Batten Disease is a genetic, degenerative disease affecting about 300 to 500 children in the
The disease is caused by a genetic defect; in order to be passed down both parents must have the defect. Parents can be tested for the disease, however, the chances of having the genetic defect are extremely rare. The real indicator for Batten Disease is whether there is a family history of the disease.
“There currently is no treatment for this disease,” says Dr. David Pearce, a Batten Disease expert at the University of Rochester Medical Center, “a child with Batten Disease will be perfectly normal up until about the age of five at which point they'll start to have some visual deterioration.”
The visual deterioration is followed by a progressive loss of cognitive and motor functions which results in fatality by the time a child reaches their late teens or early 20s. Batten Disease really centers in the part of our brain that controls our motor functions allowing us to walk and move our hands, but in children with this disease, that part of their brain gets over excited.
Dr. Pearce’s team recently discovered a drug therapy which may offer hope to children with the disease. The drug, called “EGIS832”, blocks the excited receptors in the brain, slowing down the disease. In lab experiments, the drug worked in mice and the hope is that it may work in children too.
“I consider it a breakthrough,” says Pearce who cautions the work is still in the preliminary stages, “this suggests that we may have a window of opportunity to slow down the disease in the children if we can further develop this drug to be applied to humans.
Pearce says any human clinical trials are still about three years away. The treatment may also hold promise for similar diseases such as metchromatic leukodystrophy and Krabbe disease, the disease which affected Jim Kelly’s late son, Hunter.
“The earlier we could treat the disease, clearly, that would have huge potential.”
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