Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

Maria Veronica Munoz-Rojas, Taiane Vieira, Ronaldo Costa, Simone Fagondes, Angela John, Laura Bannach Jardim, Leonardo M. Vedolin, Marcia Raymundo, Patricia I. Dickson, Emil Kakkis, Roberto Giugliani

Research output: Contribution to journalArticlepeer-review

109 Scopus citations

Abstract

In mucopolysaccharidosis I, deficiency of α-L-iduronidase can cause spinal cord compression (SCC) due to storage of glycosaminoglycans (GAGs) within the cervical meninges. As intravenous enzyme replacement therapy (ERT) is not likely to provide enzyme across the blood-brain barrier, standard treatment for this complication is usually surgical, which has a high morbidity and mortality risk. We report on the use of intrathecal (IT) laronidase in a MPS I patient with SCC who refused the surgical treatment. Assessments were performed at baseline, with clinical and biochemical evaluations, 4-extremity somatosensory evoked potentials, 12 min walk test and MRI studies of the CNS. Changes on these parameters were evaluated after 4 IT infusions of laronidase administered monthly via lumbar puncture. To our knowledge, this was the first MPS patient who received IT ERT. No major adverse events were observed. There were no clinically significant changes in serum chemistries. CSF GAG results revealed pretreatment values slightly above normal standards: 13.3 mg/L (NV < 12 mg/L) which after IT laronidase infusions were within normal levels (10.3 mg/L). 12MWT presented a 14% improvement, with better performance on stability and gait control. Maximum voluntary ventilation showed 55.6% improvement considering the percentage of predicted (26.7% at baseline compared to 41.9%); Maximum Inspiration Pressure improved 36.6% of predicted (26.8% at baseline to 36.7%); Pulmonary diffusion improved 17.6% of predicted %. In conclusion, although the improvement observed in this case with IT laronidase should be confirmed in further patients, this procedure seems to be a safe treatment for SCC in MPS I.

Original languageEnglish
Pages (from-to)2538-2544
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number19
DOIs
StatePublished - Oct 1 2008
Externally publishedYes

Keywords

  • Enzyme replacement therapy
  • Intrathecal treatment
  • Lysomal storage diseases
  • Mucopolysaccharidosis
  • Mucopolysaccharidosis I
  • Scheie syndrome
  • Spinal cord compression
  • α-L-iduronidase

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