Scientists at Cornell University (CU) have demonstrated the effectiveness of delivering a gene therapy drug into the cerebrospinal fluid to correct mutations that cause Batten disease in children. A study conducted on primates was published in the journal Human Gene Therapy.
Batten disease is an inherited disease of childhood caused by mutations in the CLN2 gene that prevent the TPP-1 enzyme from working properly. Patients develop seizures, blindness and memory loss. Symptoms appear between the ages of five and ten and are associated with the accumulation of the substance lipofuscin in the cells of the nervous system. Most children with Batten disease do not live beyond age 13.
In a previous study, the authors found that introducing a viral vector with the normal CLN2 gene into the brain slowed but did not stop the progression of the disease. Scientists concluded that this route of administration does not provide the dose required to affect the central nervous system.
In a new study, scientists tested injection of a gene therapy drug into the cerebrospinal fluid in green monkeys. Cerebrospinal fluid TPP-1 levels in treated animals were 43-62% of normal levels in humans. Additionally, while in the previous study TPP-1 activity doubled in 30% of the brain after treatment, in this study it doubled in more than 41% of the brain. The authors of the article believe that their development can be a salvation for children with Batten disease, which affects 2 to 4 out of 100 thousand people.
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