Batten disease is the common name for a broad class of rare, fatal, inherited disorders of the nervous system also known as neuronal ceroid lipofuscinoses.
- Rare Pediatric Disease Designation (FDA)
- US Orphan Drug Designation
CLN2 Batten disease is caused by a defect in the CLN2 gene responsible for producing the protein TPP1, which breaks down proteins in the lysosomes of neurons.
LX1004 is an AAV mediated gene therapy treatment delivering CLN2 to the central nervous system.
CLN2 Batten disease is caused by a defect in the CLN2 gene found on chromosome 11 and affects up to approximately 900 patients in the United States and European Union. The CLN2 gene produces TPP1, which breaks down proteins in the lysosomes of neurons. In the case of CLN2 Batten disease, there is enzyme deficiency, resulting in neuronal degeneration from build-up of non-degraded proteins.
Developmental delay begins around the end of age two and children progressively lose motor and cognitive function, become unable to communicate and develop seizures and blindness. Most children with CLN2 Batten disease die between the ages of six and twelve.
LX1004 is an AAV-based gene therapy candidate designed to deliver a fully-functional CLN2 gene, to restore TPP1 expression in neuronal lysosomes, in order to have a neuroprotective effect in CLN2 Batten disease.
An increase in the tripeptidyl peptidase 1 levels in the brain is expected to reduce lysosomal storage of lipofuscin in neurons leading to improvement of motor function/behavioral deficits and ultimately survival.