This study is currently not recruiting participants.

Mucopolysaccharidosis I (MPS I) Registry

Study on a Rare Genetic Condition

Not Recruiting
All
Phase N/A
1406 participants needed

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:

  • In Asia-Pacific - Vivian Liu, +65-6431-2548, Vivian.liu@genzyme.com
  • In Europe - +31-35-699-1232, europe@mpsiregistry.com
  • In Latin America - +617-591-5500, help@mpsiregistry.com
  • In North America - +617-591-5500, help@mpsiregistry.com

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.

The purpose of this study is to investigate Mucopolysaccharidosis I (MPS I).

This study evaluates the long-term effectiveness and safety of treatments for MPS I, focusing on how the condition progresses over time and affects patients.

  • Who can participate: Individuals with a confirmed diagnosis of MPS I are eligible to participate.
  • Study details: Participants will be tracked in an observational database to gather information about their health over time. This includes those receiving enzyme replacement therapy or other treatments.
Updated on 24 Feb 2026. Study ID: NCT00144794