Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

J Inherit Metab Dis. 2008 Dec;31(6):745-52. doi: 10.1007/s10545-008-0873-2. Epub 2008 Oct 15.

Abstract

We report three siblings with Gaucher disease type III, born between 1992 and 2004. During this period, new developments resulted in different potential therapies, changing clinical practice. The two eldest siblings received enzyme replacement therapy (ERT) from the age of 24 and 5 months respectively, later followed by an increase in dosage. ERT was combined with substrate reduction therapy (SRT) from the ages of 12 and 8 years, respectively. In the youngest sibling the combination of high-dose ERT and SRT was given from the age of 5 months. The two eldest siblings showed significant neurological impairment from the age of 1.5 years, starting with a convergent strabismus and partial oculomotor apraxia, followed by cognitive decline and an abnormal EEG and BAER. In contrast, the neurological development in the youngest sibling is almost completely normal. At the age of 3 years, cognitive development, EEG and BAER are all normal. Disturbed saccadic eye movements, which were already present at the start of therapy, remained stable. In addition to the clinical efficacy, we report on the biochemical response to therapy. Based on our results, the combination of high-dose ERT and SRT should be considered as a possible therapeutic approach for GD III, especially if started at a young age. Further follow-up studies are necessary to explore the long-term therapeutic effects.

MeSH terms

  • Chemokine CCL3 / blood
  • Chemokine CCL3 / cerebrospinal fluid
  • Chemokine CCL4 / blood
  • Chemokine CCL4 / cerebrospinal fluid
  • Child
  • Child, Preschool
  • Enzyme Therapy*
  • Family Health
  • Female
  • Gaucher Disease / blood
  • Gaucher Disease / cerebrospinal fluid
  • Gaucher Disease / diagnosis*
  • Gaucher Disease / drug therapy*
  • Hexosaminidases / blood
  • Hexosaminidases / cerebrospinal fluid
  • Homozygote
  • Humans
  • Mutation
  • Time Factors
  • Treatment Outcome

Substances

  • Chemokine CCL3
  • Chemokine CCL4
  • Hexosaminidases
  • chitotriosidase