Mucopolysaccharidosis I (MPS I) Registry

Observational Study of Mucopolysaccharidosis I (MPS I)

Recruiting
All
Phase N/A
1500 participants needed
2 Locations

Study Overview

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

Study Details

The MPS I Registry is an international program; in addition to the central contact information provided under the "Location" heading, patients may contact:

Eligibility Criteria

You may be eligible for this study if you meet the following criteria:

  • Conditions: Mucopolysaccharidosis I (MPS I)
  • Gender: All

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.

This study investigates Mucopolysaccharidosis I (MPS I), a rare genetic disorder. The purpose of this observational study is to collect data on the natural history and progression of MPS I and to observe clinical responses in patients receiving enzyme replacement therapy or other treatments.

Participants in this study will have their health data collected and tracked over time to monitor the effectiveness and safety of treatments like enzyme replacement therapy. An observational study is a type of research study where data is collected by observing participants receiving routine care, without changing their treatment, which may focus on people using specific medications or having certain conditions to better understand how treatments work.

  • Who can participate: Patients of any age with a confirmed diagnosis of MPS I are eligible to participate. This includes documented enzyme deficiency or genetic mutations related to MPS I. A completed patient authorization form is required.
  • Study details: Participants will provide health data for the registry, which will be used to track the progression of MPS I and responses to treatment. No active treatments or interventions will be administered as part of this study.
Updated on 31 Oct 2025. Study ID: NCT00144794

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