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

Study ID
STU 012012-080

Cancer Related
No

Healthy Volunteers
No

Study Sites

  • UT Southwestern University Hospital– Zale Lipshy
  • UT Southwestern-Other

Contact
Sarah McNeil
214-648-5573
sarah.mcneil@utsouthwestern.edu

Principal Investigator
Elizabeth Maher

Summary

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 2 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