BioMarin Pharmaceutical said Brineura (cerliponase alfa), the first treatment for neuronal ceroid lipofuscinosis type 2 (CLN2) in the European Union, received marketing approval by the European Commission through an accelerated review procedure.
CLN2 is a rare, progressive fatal brain condition that affects approximately 1,200 to 1,600 children worldwide, the BioMartin release said.
Brineura is an enzyme replacement therapy that is administered to the cerebrospinal fluid surrounding the brain, BioMarin said in the release. It replaces the tripeptidyl peptidase 1 (TPP1) enzyme, which is lacking due to mutations in the TPP1 gene. Without TPP1, the lysosomal storage materials accumulate in many organs, especially the brain and retina.
Because the storage materials are not metabolized by the TPPi enzyme, they build up in nervous system cells. This leads to the neurodegeneration that causes cognitive, motor and visual function loss, and death between the ages of 8 and 12.
"Today represents several important milestones for the medical and patient communities, and also for me, both professionally and personally," Dr. Angela Schulz of the University Medical Center Hamburg-Eppendorf Children's Hospital Department of Paediatrics, principal investigator of the Brineura studies, said in the release. "For the first time since entering this field nearly 15 years ago, I can now tell families affected by CLN2 disease that there is a meaningful treatment that may help their child, and provide hope. We are committed to furthering the study of Brineura and believe that the medical knowledge gained from the Brineura studies can help us learn more about treating other neurodegenerative diseases."