Potential therapies for the treatment of Battens Disease

Gene Transfer Therapy
The most promising treatment looks to be Gene Transfer Therapy. This involves the introduction of a functioning gene into the Central Nervous System of the patient. The functioning gene would produce the vital enzyme that is required by the central nervous system to remove the harmful build up of fats and proteins. In principle, this would be a long-term cure.

Stem Cell Therapy
This therapy would involve injecting adult stem cells into the Central Nervous System. These stem cells would produce the enzyme and help the Central Nervous System to regain its function. Adult stem cell therapy has tremendous promise for growing neurons in the Central Nervous System to ‘rebuild’ the brain.

Enzyme Replacement Therapy/Blood Brain Barrier Technologies
This therapy would inject the enzyme that the patient is missing into the Central Nervous System. This therapy would work well, but there are delivery issues with having to continually inject enzymes into a patient’s Central Nervous System. New technologies are being discovered that aid compounds/enzymes to cross the blood-brain barrier by altering its properties.

Small Molecule Pharmaceuticals
This treatment would introduce a drug compound into the body that could cross the blood-brain barrier into the Central Nervous System of a patient to either enhance residual enzyme activity or remove the storage of material that is harmful to the patient. Several drugs have showed potential for increasing the necessary TPP-1 enzyme levels.

Trial Progress
The Jordan Jay Trust has to date supported the Gene Transfer Therapy Project at Cornell’s University in New York commissioned by NBF.

Cornell's final study data has been completed confirming the drug will work. The data demonstrated robust enzyme expression at an 18-month time point in the animals with no negative side effects. This data is extremely promising and is the first of its kind at an 18-month time interval.

NBF has signed a $2.1 million dollar milestone driven pledge agreement with Cornell’s University to pay for the human clinical trial. NBF and their supporters must make quarterly payments of $177,000 for the next three years starting January 2004.

The Clinical Trial at Cornell’s has finally begun: the first three children were treated in the summer 2004. They each underwent six hours of brain surgery, which involves the drilling of six holes into the child’s skull and the injection of the gene therapy into specific targets in their brain. This is major surgery and a traumatic procedure for the children, but so far so good, they have all made a good recovery, however it will be many months before any real data will be available.