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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

Enzyme Replacement Therapy

What is Enzyme Replacement Therapy (ERT)?

Enzyme Replacement Therapy (ERT) provides the missing or deficient enzyme through regular IV infusions.

What is the Current Status of Enzyme Replacement Therapy?

Enzyme Replacement Therapy has very effectively treated Gaucher Type I for the past 20+ years. ERT is also available for Fabry, certain types of Mucopolysaccharidosis (MPS) and Pompe. ERT for Niemann-Pick Types A & B is in clinical trials.

What are the Challenges of Enzyme Replacement Therapy?

Enzymes are large molecules that do not pass the blood brain barrier into the central nervous system. Approved ERT therapies are currently only effective treating the non-neurological symptoms of diseases. Efforts to by pass the blood brain barrier by injecting the enzyme directly into the spinal cord, known as intrathecal delivery, are promising in animal models and just starting in human clinical trials of MPS Type I. In addition, there is an ERT clinical trial for late infantile Batten Disease that is being administered directly into the brain.

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