Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy

FASEB J. 2007 Aug;21(10):2520-7. doi: 10.1096/fj.06-6169com. Epub 2007 Apr 2.

Abstract

Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a devastating, degenerative neurological disorder. It is inherited as an autosomal recessive trait caused by loss-of-function mutations in the galactocerebrosidase (GALC) gene. Previously, we have shown that peripheral injection of recombinant GALC, administered every other day, results in a substantial improvement in early clinical phenotype in the twitcher mouse model of GLD. While we did detect active enzyme in the brain following peripheral administration, most of the administered enzyme was localized to the periphery. Given the substantial central nervous system (CNS) involvement in this disease, we were interested in determining whether or not a single-dose administration of the recombinant enzyme directly to the CNS, which could potentially be achieved clinically, would result in any substantial improvement. Following intracerebroventricular (i.c.v.) administration of GALC we noted a significant, 16.5%, reduction in the GALC substrate psychosine, the abnormal accumulation of which is believed to play a pivotal role in the CNS pathology observed in this disease. Moreover, recombinant GALC was found not only in periventricular regions but also at sites distant to the injection such as the cerebral cortex and cerebellum. Most importantly, animals receiving a single i.c.v. dose of the enzyme at postnatal day 20 survived up to 51 days, which compares favorably to the control twitcher animals, which normally only live to postnatal day 40/42. These results indicate that even a single i.c.v. administration of the recombinant enzyme can have significant clinical impact and suggests that other lysosomal storage disorders with significant CNS involvement may similarly benefit.

MeSH terms

  • Animals
  • Brain / enzymology
  • Brain / pathology
  • Galactosylceramidase / administration & dosage
  • Galactosylceramidase / deficiency
  • Galactosylceramidase / genetics
  • Galactosylceramidase / pharmacokinetics
  • Galactosylceramidase / therapeutic use*
  • Injections, Intraventricular
  • Kinetics
  • Leukodystrophy, Globoid Cell / drug therapy*
  • Leukodystrophy, Globoid Cell / enzymology
  • Leukodystrophy, Globoid Cell / pathology
  • Mice
  • Mice, Inbred C57BL
  • Models, Animal
  • Recombinant Proteins / administration & dosage
  • Recombinant Proteins / metabolism
  • Recombinant Proteins / therapeutic use
  • Substrate Specificity
  • Tissue Distribution

Substances

  • Recombinant Proteins
  • Galactosylceramidase