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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 stem cells into the brain. These stem cells would replace the brain cells that have died and help the Central Nervous System regain its function. Different stem cells are being used; the therapy has tremendous promise for growing neurons in the Central Nervous System to ‘rebuild’ the brain

Enzyme Replacement Therapy
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.

Dr Beverly Davidson of University of Iowa has for a number of years been working on different gene delivery platforms to replace TPP1 (the missing enzyme in LINCL). Her latest research and animal studies show some promise, and Davidson’s laboratory is expected to begin further studies of primates during 2010. Some of her work is funded by Blake’s Purpose: please see http://www.blakespurpose.org/research for more information.

Trial Progress

Gene Therapy – Cornell’s Medical Centre, New York
The Jordan Jay Trust has supported the Gene Transfer Therapy Project at Cornell’s University in New York commissioned by NBF.

After several years of research, Cornell’s final study data demonstrated robust enzyme expression at an 18-month time point in the animals with no negative side effects. At the beginning of 2004, NBF signed a $2.1 million milestone driven pledge agreement with Cornell’s University to pay for the human clinical trial. NBF and their supporters agreed to make quarterly payments of $177,000 over the next three years.

The clinical trial at Cornell’s started in the spring of 2004: 10 children took part. They each underwent six hours of brain surgery, which involved the drilling of six holes into the child’s skull and the injection of the gene therapy into specific targets in their brain. This was major surgery and a traumatic procedure for the children. One severely affected child died just a few weeks after the surgery, at which point Cornell’s made some changes to the inclusion criteria and all the other children made a good recovery. The trial results show that the gene therapy is safe and effective at slowing the progression of Late Infantile Battens Disease.

In May 2008, Cornell’s published their papers and also made a public press release.

Link to Cornell’s press release: http://www.eurekalert.org/pub_releases/2008-05/nyph-ncg050908.php

Link to papers published in the Human Gene Therapy Medical Journal: http://www.liebertonline.com/doi/pdfplus/10.1089/hum.2008.022

The team at Cornell’s has been working to improve the therapy and a new vector (AAVHR10-CLN2) indicates better enzyme expression in animal models and the FDA has given preliminary support to taking the improved therapy to trial. Unfortunately, as before, funding seems to be a major stumbling block. Private funding or NIH funding would enable Cornell’s to move forward with this promising drug and get us one step closer to finding a cure.

At the beginning of 2010, Cornell’s received funding from the NIH (National Institute of Health) and have begun enrolling patients for a second Gene Therapy trial to study the effectiveness of the new vector, which looks to be far more potent than the vector used in the first Gene Therapy trial. For more information, please see attached link: http://clinicaltrials.gov/ct2/show/NCT01035424?term=battens&rank=2

Stem Cell Treatment – Stem Cell’s Inc. California/Oregon Health and Science University
In October 2005, Stem Cell’s Inc. received FDA approval to begin a Phase 1 human clinical trial of neural stem cells to treat Late Infantile Battens Disease. This is the first ever trial in the States to implant human neural stem cells into the brain and six children have taken part in the first phase (please see www.stemcellsinc.com) for more information and press releases.

In April 2010, Stemcells Inc. announced plans to advance to a Phase II Clinical Trial. Data from the first trial showed the procedure was well tolerated; they are encouraged to advance their clinical programme. The company plans to enrol six mildly affected children with infantile and late infantile Battens. For more information, read the attached link http://www.stemcellsinc.com/news/100421.html

Stem Cell Treatment – General Navy Hospital, Beijing, China
The Neuro Surgery Department of the General Navy Hospital started treating children with Late Infantile Battens Disease in June 2005.

They also use Neural Stem Cells injected into specific parts of the brain where the neurosurgeon estimates they are most likely to be beneficial. The surgery takes approximately two hours and they drill just one or two injection sites to minimise risk. It is thought to be more beneficial to have repeat injections at 8 to 12 month intervals. They have treated 8 children, some have reported temporary improvements, but no long-term benefits or prolonged life expectancy.