Mucopolysaccharidosis I (MPS I) Registry


Trial ID: NCT00144794


The Mucopolysaccharidosis I (MPS I) Registry is an ongoing, observational database that tracks the outcomes of patients with MPS I. The data collected by the MPS I Registry will provide information to better characterize the natural history and progression of MPS I as well as the clinical responses of patients receiving enzyme replacement therapy, such as Aldurazyme (Recombinant Human Alpha-L-Iduronidase), or other treatment modalities. The objectives of the Registry are: - To evaluate the long-term effectiveness and safety of Aldurazyme® (laronidase) - To characterize and describe the MPS I population as a whole, including the variability, progression, and natural history of MPS I - To help the MPS I medical community with the development of recommendations for monitoring patients and reports on patient outcomes to optimize patient care

Official Title

Mucopolysaccharidosis I (MPS I) Registry

Stanford Investigator(s)


Inclusion Criteria:

   - All patients with a confirmed diagnosis of MPS I are eligible for inclusion. Confirmed
   diagnosis is defined as: A. documented biochemical evidence of a deficiency in alpha
   (a)-L-iduronidase enzyme activity and/or B. mutation(s) in the gene coding for
   a-L-iduronidase, or measurable clinical signs and symptoms of MPS I

   - For all patients there should be a completed patient authorization form

Exclusion Criteria:

   - No exclusion criteria for participation in the MPS I Registry. NOTE: Registry
   participation does not exclude participation in other clinical studies.


Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305