Argentina has introduced a new therapeutic option for the treatment of Batten disease, a rare genetic disorder. The drug, cerliponasa alfa, has been approved by the National Administration of Medicines, Food and Medical Technology (ANMAT). This marks a historical milestone, as it is the first therapy in the world capable of slowing the progression of CLN2 disease, offering new hope to families facing this diagnosis. Batten disease is a group of rare genetic disorders that interfere with the cells' ability to degrade and recycle certain proteins and lipids. In the case of CLN2, the cause is a deficiency or absence of the enzyme tripeptidyl-peptidase 1 (TPP1). Cerliponasa alfa is an enzyme replacement therapy that works by directly substituting the deficient or absent TPP1 enzyme. Unlike other systemic treatments that cannot cross the blood-brain barrier, this therapy is administered directly into the central nervous system via a surgically implanted device. This method of administration represents a biotechnological breakthrough, allowing the enzyme to reach the brain where it is needed. "This therapy demonstrates that early detection can completely change a patient's prognosis. Today, with the arrival of this new therapy, we can speak for the first time of modifying the natural course of the disease. The earlier it is detected, the greater the impact of the treatment," insisted Dr. Guelbert. The inheritance of Batten disease follows an autosomal recessive pattern: both parents carry a copy of the faulty gene. Each child has a 25% chance of developing the disease and a 50% chance of being a carrier. This highlights the importance of training for pediatricians, neurologists, and ophthalmologists. In particular, a multicenter Phase 2 trial (study 190-203) showed that children treated before the age of 3 maintained their ability to walk and a nearly normal motor function for over three years, in contrast to untreated patients, who in most cases lost the ability to walk by the age of 6. When this enzyme does not function correctly, toxic substances accumulate within the neurons, causing progressive damage to the central nervous system. Although considered a very rare disease, with an estimated prevalence of two to four cases per 100,000 live births, its impact is highly aggressive. In Argentina, it is estimated that there are fewer than 30 patients diagnosed with CLN2, although specialists warn that there are likely more undiagnosed cases due to the complexity of the diagnosis and a general lack of awareness about this pathology. "For many years, the only thing we could offer parents was support and palliative care. These results were considered a turning point in the natural history of the disease. This is not a cure, but it is a tool that can halt or slow its progression, and that is a huge change," explained Dr. Norberto Guelbert. The symptoms of CLN2 progress rapidly if not treated. Between the ages of 3 and 6, children usually progressively lose the ability to walk and talk. By age 7 or 8, they may develop dementia, muscle rigidity, and vision loss, and between the ages of 8 and 12, they often become bedridden. Most die before adolescence. When a child of two or three years old loses skills they already had, stops speaking, or has unexplained epileptic seizures, a genetic diagnosis should be considered. The diagnosis requires specific genetic tests to detect mutations in the TPP1 gene and enzymatic studies to measure the activity of that enzyme in dried blood spots or fibroblasts. This genetic characteristic reinforces the importance of family counseling and genetic testing for siblings and relatives, a practice that is not yet widespread in the region but is key for prevention and family planning.
