Mucopolysaccharidosis I (MPS I) Registry

Investigation of Mucopolysaccharidosis I (MPS I): A Rare Genetic Disorder's Progression and Treatment Outcomes

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 caused by the body's inability to produce a specific enzyme, leading to a buildup of complex sugars in the body. The purpose of this observational study is to collect data on patients with MPS I to understand the natural progression of the disease and the effects of different treatments, including enzyme replacement therapy.

Participants in this study will undergo routine monitoring and data collection to track their health outcomes over time. 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: Individuals of any age with a confirmed diagnosis of MPS I can participate. This includes those with documented enzyme deficiency or genetic mutations related to MPS I. A completed patient authorization form is required.
  • Study details: Participants will be observed as part of their routine care, with data collected on their health and treatment outcomes.

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