Mucopolysaccharidosis I (MPS I) Registry

Observational Study of MPS I Outcomes

Recruiting
All
Phase N/A
1500 participants needed
62 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 20 Nov 2024. Study ID: NCT00144794

This study investigates the condition known as Mucopolysaccharidosis I (MPS I), which is a rare genetic disorder affecting the body's ability to break down certain sugars. The purpose of this study is to gather information about the natural history and progression of MPS I, as well as the clinical responses of patients receiving enzyme replacement therapy or other treatments.

Participants in the study will be observed over time to evaluate the long-term effectiveness and safety of enzyme replacement therapy. The study will collect data to help the medical community develop recommendations for monitoring patients and improving patient care.

  • Who can participate: Patients of any age with a confirmed diagnosis of MPS I are eligible to participate. This includes those with documented evidence of enzyme deficiency or genetic mutations related to MPS I. A completed patient authorization form is required for participation.
  • Study details: Participants will be observed in an international registry, which is a type of study where information is collected over time. There will be no investigational treatments given, and participation does not affect eligibility for other studies.

Find a Study Location to Connect

What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer  to help accelerate the development of new treatments and to get notified about similar trials.

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