Novel treatments and future perspectives: outcomes of intrathecal drug delivery.

Intrathecal enzyme replacement therapy (ERT) holds promise as a treatment for the central nervous system manifestations of lysosomal storage diseases. Treatment via the cerebrospinal fluid represents a potential method of delivering recombinant enzyme across the blood-brain barrier. Experiments in animal models of mucopolysaccharidosis (MPS) Type I, MPS II and MPS IIIA have shown that ERT delivered via the intrathecal route distributes throughout the central nervous system and penetrates brain tissue, where it promotes clearance of lysosomal storage material. Studies are underway to investigate the safety and efficacy of intrathecal ERT in patients with MPS I.