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Gene Therapy for Batten Disease

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Drs. Mark Souweidane and Michael Kaplitt are testing a new surgical procedure for Batten disease, or Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL), a rare, genetic, degenerative neurological disorder that usually becomes fatal in children by the age of 8 to 12. In this trial, which has shown promising results, six tiny holes are made in the skull of the patient, then a liquid containing a harmless gene-bearing virus is delivered into the brain.  The gene in question — CLN2 — is mutated in children with the disease, causing a deficiency in the enzyme TTP-1, which is responsible for ridding cells of the central nervous system of waste materials. Small organelles within the cell, called lysosomes, become clogged with toxic material within the neurons of the brain. When this happens, children with the disease begin exhibiting neurological symptoms, starting around age 4, including impaired muscle coordination (ataxia), involuntary twitching (myoclonus), and speech and developmental disorders.  
For more information on our clinical trials for Batten disease, see, or see this press release.