Hope for Batten Disease: New Treatment Available in Argentina

Neuronal ceroid lipofuscinosis type 2 (CLN2), also known as Batten disease, is a serious genetic condition that affects young children. It causes the nervous system to slowly break down, and usually starts showing symptoms between 2 and 4 years old. These early signs include delays in language, frequent seizures, and a loss of skills the child already learned.

As time goes on, the disease gets worse, leading to meaningful neurological problems. Children lose the ability to walk,talk,and see,eventually needing total care. Without treatment, most children with CLN2 don’t live past their first decade.

Diagnosing CLN2 can be arduous. Many children are first treated for epilepsy because of the seizures. However, if the epilepsy doesn’t respond to standard medications, doctors should consider the possibility of a neurometabolic disease.

To confirm a diagnosis,doctors need to do specific genetic tests to look for changes in the TPP1 gene. Thay also measure the activity of the enzyme made by this gene using a blood test or a test on skin cells. These tests are available in some labs and specialized centers in Argentina.

Without treatment, CLN2 symptoms get worse quickly. Between ages 3 and 6, children often lose their ability to walk and talk. By 7 or 8, they may develop dementia, stiff muscles, and vision loss. Between 8 and 12, they often become unable to get out of bed.Most children die before becoming teenagers. This is why cerliponase alfa is so vital.

Cerliponase alfa is now available in Argentina, offering a new treatment option for Batten disease. Its recent approval by ANMAT is a major step forward, as it’s the first therapy proven to slow down the progression of CLN2. This gives new hope to families facing this difficult diagnosis.

CLN2 is part of a group of genetic diseases that impact…