For three days in February, researchers from around the globe gathered in Miami to speak about the fight for a cure for various lysosomal storage diseases, a group that includes the various forms of Batten disease. The dedication and devotion of the researchers and the sheer brilliance of their work was both humbling and encouraging. 

There are three major arms of Batten disease research: gene therapy, enzyme replacement therapy and stem cell therapy. Each method has its own merits as well as its own inherent difficulties. A marriage of two of these approaches may be just what the doctor ordered. 

Two separate projects have shown distinct promise for the fight for a cure. Sandra Hofmann, M.D., Ph.D., a professor of internal medicine and molecular genetics at the University of Texas Southwestern, recently described the development of human recombinant PPT1, the defective enzyme in children with infantile Batten disease. The enzyme has been produced and injected into mice, but thus far, very little of it has been shown to actually reach the brain, where it is needed. The culprit is the blood brain barrier (BBB), the brain’s natural defense mechanism. The BBB is important because it keeps harmful substances from reaching the brain. Unfortunately, the BBB is so effective that it sometimes prevents helpful substances from reaching the brain as well. Thus, devising a way to deliver vital cargo – in this case, the enzyme – to the brain is a central focus of Batten disease research.

Beverly Davidson, Ph.D., a researcher at the University of Iowa, has developed a way to cross the BBB using a genetically engineered viral vector. The viral vector recognizes certain protein receptors on the neuron cell, binds to it and delivers the cargo (enzyme) to the cell. The cell can then go through the process of repair and, hopefully, arrest or reverse the effects of the disease. If successful, this technique could possibly be used to treat other lysosomal storage diseases as well as other brain-based diseases. 

The idea is as brilliant as it is simple. It seems so obvious – so easy. And yet, the work is far from over. Scientists are just now applying this idea to mice. What works in mice may not necessarily work in humans, meaning that further research with primates will likely be needed prior to human trials. The viral vector will likely need modifications prior to primate and human trials. And, to continue moving forward, research will require corporate interest and support, continued diligence and dedication from our scientists and continued funding from sources such as Taylor’s Tale.

We need your support to ensure that the exciting research of today is able to save the lives of children with Batten disease in the future! Click here to make a gift online and help write the happy ending to Taylor’s Tale.