Clinical Trial: Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I

Study Status: Terminated
Recruit Status: Terminated
Study Type: Interventional

Official Title: A Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I

Brief Summary: The investigators are studying the use of enzyme replacement therapy into the spinal fluid for treatment of spinal cord compression in the Hurler-Scheie and Scheie forms of mucopolysaccharidosis I (MPS I). Funding source -- FDA OOPD

Detailed Summary: Enzyme replacement therapy (ERT) has been developed for mucopolysaccharidosis I (MPS I), a lysosomal storage disorder. ERT helps many physical ailments due to the disease, but does not treat the central nervous system, due to inability to cross the blood brain barrier. Our purpose is to test delivery of ERT to the spinal fluid via intrathecal injection in patients with MPS I. In this pilot study, we will use recombinant human α-L-iduronidase administered intrathecally once per month for four months to individuals with the Hurler-Scheie and Scheie forms of MPS I and spinal cord compression. If successful, intrathecal delivery could represent a practical, straightforward method of treating central nervous system disease due to lysosomal storage.
Sponsor: Patricia I. Dickson, M.D.

Current Primary Outcome: safety of intrathecal enzyme treatment by blood and spinal fluid tests each month [ Time Frame: four months ]

Original Primary Outcome:

  • safety of intrathecal enzyme treatment by blood and spinal fluid tests each month
  • improvement in neurologic signs related to spinal cord compression, by neurologic examination and Japanese Orthopedic Association Scale each month
  • improvement in neurologic symptoms related to spinal cord compression, by subjective assessments and independence of functioning scale each month
  • improvement in mobility, by six-minute walk test each month
  • improvement in spinal cord compression by MRI imaging and somatosensory evoked potentials at baseline and 4 months
  • improvement in lysosomal storage by spinal fluid glycosaminoglycan levels at each treatment


Current Secondary Outcome: improvement in spinal cord compression due to mucopolysaccharidosis I [ Time Frame: four months ]

Original Secondary Outcome:

  • improvement in spinal fluid pressure, by opening pressure measurements at each intrathecal treatment
  • improvement in hydrocephalus and other brain lesions by MRI at baseline and 4 months


Information By: Dickson, Patricia I., M.D.

Dates:
Date Received: September 19, 2005
Date Started: November 2005
Date Completion:
Last Updated: February 20, 2013
Last Verified: February 2013