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Mucopolysaccharidosis I (MPS I) Registry

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2016 by Sanofi
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company ) Identifier:
First received: September 2, 2005
Last updated: August 2, 2016
Last verified: August 2016

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

Mucopolysaccharidosis I (MPS I)

Study Type: Observational
Study Design: Observational Model: Cohort
Official Title: Mucopolysaccharidosis I (MPS I) Registry

Resource links provided by NLM:

Further study details as provided by Sanofi:

Primary Outcome Measures:
  • To evaluate the long-term effectiveness of Aldurazyme [ Time Frame: Approximately 17 Years ] [ Designated as safety issue: No ]

Estimated Enrollment: 1500
Study Start Date: November 2003
Estimated Study Completion Date: December 2020
Estimated Primary Completion Date: December 2020 (Final data collection date for primary outcome measure)
Detailed Description:

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,
  • In Europe - +31-35-699-1232,
  • In Latin America - +617-591-5500,
  • In North America - +617-591-5500,

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
All Patients with MPS I

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00144794

Contact: For site information, send an email with site number to
Contact: MPS I Registry HelpLine 617-591-5500

  Show 55 Study Locations
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Medical Monitor Genzyme, a Sanofi Company
  More Information

Responsible Party: Genzyme, a Sanofi Company Identifier: NCT00144794     History of Changes
Other Study ID Numbers: MPS I Registry  DIREGC07008 
Study First Received: September 2, 2005
Last Updated: August 2, 2016
Health Authority: United States: Institutional Review Board

Keywords provided by Sanofi:
Hurler's Syndrome
Hurler-Scheie Syndrome
Scheie Syndrome

Additional relevant MeSH terms:
Mucopolysaccharidosis I
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases processed this record on October 26, 2016