Compassionate Use: A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I

Study ID
STU 012012-080

Cancer Related

Healthy Volunteers

Study Sites

  • UT Southwestern-Other
  • Zale Lipshy University Hospital

Sarah McNeil

Principal Investigator
Elizabeth Maher, M.D., Ph.D.


The approved drug, aldurazyme, will be injected into the spinal canal via Lumbar Puncture. The patient will be treated once every 30 days for 3 months and then once every 3 months for 4 years. The patient will be monitored for side effects and kept in 23 hour observation post procedure. The uploaded protocol (active at uCLa) will be followed for procedure and safety purposes.

Participant Eligibility

*presence of MPS I disease
*minimum 6 months consecutive IV ERT with Aldurazyme
*18 years of age
*acquired cognitive deficits