Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I

Trial end date:
Target enrollment:
Participant gender:
This is a one-year extension study of the use of laronidase into the spinal fluid to treat spinal cord compression in mucopolysaccharidosis I. Mucopolysaccharidosis I is a rare genetic condition due to deficiency of the enzyme alpha-l-iduronidase. Spinal cord compression occurs in this condition due to accumulation of material called glycosaminoglycans (GAG). Laronidase is the manufactured form of the enzyme alpha-l-iduronidase that is deficient in mucopolysaccharidosis I patients. The aim of this study is to determine whether laronidase is safe and effective when given into the spinal fluid as a potential non-surgical treatment for spinal cord compression due to mucopolysaccharidosis I disease. Funding Source -- FDA OOPD
Phase 1
Accepts Healthy Volunteers?
Lead Sponsor:
Patricia I. Dickson, M.D.
The Ryan Foundation
Inclusion Criteria:

- Hurler-Scheie, Scheie form of MPS I, or Hurler 2 years after hematopoietic stem cell

- Spinal cord compression

- Has received intrathecal laronidase previously with good response and no
significant safety concerns

- Age greater than 8 years

- Able to provide legal informed consent

- Aware of clinical treatment option of observation without treatment or surgical

- Negative urine pregnancy test at screening (nonsterile females of child-bearing
potential who are sexually active only)

Exclusion Criteria:

- Severe (Hurler) form of MPS I

- Desires surgical or medical treatment of spinal cord compression

- Spinal cord compression that warrants immediate surgical intervention

- Pregnancy or lactation

- Hematopoietic stem cell transplantation within 2 years of study enrollment

- Receipt of an investigational drug within 30 days of enrollment

- Infusion reactions to laronidase that required medical intervention, prophylaxis, or
altered enzyme administration

- Significant anti-iduronidase antibody titer

- Recent initiation of intravenous laronidase (within past 6 months)

- Presence of cervical subluxation or similar external pathology as the major cause of
cord compression symptoms for which surgical intervention should be immediately