A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I
Status:
Completed
Trial end date:
2015-04-01
Target enrollment:
Participant gender:
Summary
This is a 24-month study of the use of laronidase administered into the spinal fluid to treat
cognitive decline in mucopolysaccharidosis I (MPS I). MPS I is a rare genetic condition due
to deficiency of the enzyme alpha-l-iduronidase. Laronidase is the manufactured form of the
enzyme alpha-l-iduronidase.
MPS I is a heterogeneous disease with several clinical phenotypes ranging from the most
severe, Hurler syndrome, to the attenuated forms, Hurler-Scheie and Scheie. Although patients
with milder forms of MPS I may not have grossly observable problems with cognition, these
patients do have learning difficulties that are apparent in school and with
neuropsychological testing. The goal of this study is to evaluate whether intrathecal
recombinant human alpha-l-iduronidase (rhIDU) injections can stabilize or improve cognitive
decline in individuals with MPS I.
Phase:
N/A
Details
Lead Sponsor:
Patricia I. Dickson, M.D.
Collaborators:
BioMarin Pharmaceutical National Center for Advancing Translational Science (NCATS) National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) National Institute of Neurological Disorders and Stroke (NINDS) Rare Diseases Clinical Research Network The Ryan Foundation University of California, Los Angeles University of Minnesota University of Minnesota - Clinical and Translational Science Institute