Cerliponase Alfa (BMN 190) for CLN2 disease
Cerliponase alfa is an investigational enzyme replacement therapy designed to treat CLN2 disease, a form of Batten disease.
The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders that includes the autosomal recessive neurodegenerative disorder CLN2 disease. CLN2 disease is caused by mutations in the TPP1/CLN2 gene resulting in deficient activity of the enzyme tripeptidyl peptidase 1 (TPP1). In the absence of TPP1, lysosomal storage materials normally metabolized by this enzyme accumulate in many organs, particularly in the brain. Buildup of these storage materials in the cells of the brain and nervous system cause progressive neurodegeneration and loss of cognitive, motor, and visual functions. Disease progression is rapid. The onset of symptoms is typically between ages 2 and 4. Patients typically present initially with language delay and seizures, followed by movement disorders, motor deterioration, dementia, blindness and early death. During the later stages of the disease, feeding and tending to everyday needs become very difficult and death typically occurs between 8 and 12 years of age.
Cerliponase alfa (BMN 190) is a recombinant form of human TPP1, the enzyme deficient in patients with CLN2 disease. It is an enzyme replacement therapy designed to restore TPP1 enzyme activity and break down the storage materials that cause CLN2 disease. In order to reach the cells of the brain and central nervous system, the treatment is delivered directly to the fluid surrounding the brain using BioMarin’s patented technology. Animal research has shown that cerliponase alfa distributes widely in the brain and is able to get into the cells of the brain and break down the storage materials.
BioMarin estimates the incidence of CLN2 disease is approximately 1 in 200,000 with approximately 1,200 to 1,600 children in BioMarin’s commercial territories.
Cerliponase alfa was granted Orphan Drug designation in both the United States and the European Union.