Cerliponase alfa

Enzyme replacement therapy for Batten disease

Cerliponase alfa
File:Cerliponase alfa structure.png
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Cerliponase alfa is a recombinant form of the human enzyme tripeptidyl peptidase-1 (TPP1) used as an enzyme replacement therapy for the treatment of neuronal ceroid lipofuscinosis type 2 (CLN2), a form of Batten disease. This condition is a rare, inherited disorder that primarily affects the nervous system, leading to progressive neurological impairment.

Mechanism of Action

Cerliponase alfa functions by supplementing the deficient TPP1 enzyme in patients with CLN2 disease. TPP1 is responsible for breaking down certain proteins within the lysosome, a cellular organelle involved in waste processing. In individuals with CLN2, mutations in the TPP1 gene lead to enzyme deficiency, resulting in the accumulation of lipofuscin and other substrates, which are toxic to neurons. By providing the missing enzyme, cerliponase alfa helps to reduce the buildup of these substances, thereby slowing the progression of the disease.

Administration

Cerliponase alfa is administered via intracerebroventricular injection, a method that delivers the enzyme directly into the cerebrospinal fluid (CSF) surrounding the brain and spinal cord. This approach is necessary because the enzyme cannot cross the blood-brain barrier when given systemically. The treatment is typically given every two weeks in a clinical setting.

Clinical Use

Cerliponase alfa is indicated for pediatric patients with CLN2 disease. The therapy has been shown to slow the progression of motor and language decline in affected children. Early diagnosis and initiation of treatment are crucial for maximizing the benefits of the therapy.

Side Effects

Common side effects of cerliponase alfa include fever, vomiting, seizures, and hypersensitivity reactions. Due to the method of administration, there is also a risk of complications such as meningitis and device-related infections. Patients receiving this treatment require regular monitoring for these potential adverse effects.

Research and Development

Cerliponase alfa was developed by BioMarin Pharmaceutical Inc. and received approval from the Food and Drug Administration (FDA) in 2017. It represents a significant advancement in the treatment of CLN2 disease, offering hope for improved quality of life in affected children.

Related pages

• Batten disease
• Lysosomal storage disease
• Enzyme replacement therapy
• Neuronal ceroid lipofuscinosis