Mucopolysaccharidosis I (MPS I) Registry

Observing Mucopolysaccharidosis I Through a Patient Registry

Recruiting
All
Phase N/A
1500 participants needed
63 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.

Updated on 10 Jun 2024. Study ID: NCT00144794

This study investigates Mucopolysaccharidosis I (MPS I), a rare genetic disorder. The purpose is to understand the natural history and progression of MPS I, as well as how patients respond to treatments like enzyme replacement therapy. MPS I is a condition where the body lacks an enzyme called alpha-L-iduronidase, leading to the buildup of complex sugars in the body.

Participants in this study will be observed over time to collect data on their health and treatment responses. The study will also gather information to help doctors understand more about MPS I and improve patient care. This is an observational study, meaning that participants will not receive any new treatments as part of the study.

  • Who can participate: Individuals with a confirmed diagnosis of MPS I can participate. This includes those with documented enzyme deficiency or genetic mutations related to MPS I. Participants must have completed a patient authorization form.
  • Study details: Participants will be observed to track their health and treatment outcomes. This involves collecting data on the progression of MPS I and responses to existing treatments. The study is observational, so no investigational treatments are given. No placebo is used in this study.

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