Mucopolysaccharidosis I (MPS I) Registry

Purpose

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

Condition

  • Mucopolysaccharidosis I (MPS I)

Eligibility

Eligible Ages
All ages
Eligible Genders
All
Accepts Healthy Volunteers
No

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.

Study Design

Phase
Study Type
Observational
Observational Model
Cohort
Time Perspective
Other

Recruiting Locations

Massachusetts General Hospital-Genetics Site Number : 840062
Boston, Massachusetts 02114

More Details

Status
Recruiting
Sponsor
Genzyme, a Sanofi Company

Study Contact

For site information, send an email with site number to
Contact-Us@sanofi.com

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, 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