Mucopolysaccharidosis I (MPS I)
Conditions
Keywords
Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
Brief summary
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
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
Interventions
None listed
Sponsors
Genzyme, a Sanofi Company
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To evaluate the long-term effectiveness of Aldurazyme | Approximately 17 Years |
Countries
Argentina, Australia, Belgium, Brazil, Canada, Chile, Colombia, Czechia, Denmark, Egypt, France, Germany, Hong Kong, India, Indonesia, Ireland, Italy, Japan, Kuwait, Lebanon, Malaysia, Netherlands, Pakistan, Philippines, Poland, Portugal, Romania, Russia, Saudi Arabia, Slovakia, South Korea, Sweden, Taiwan, Thailand, United Kingdom, United States, Vietnam
Contacts
STUDY_DIRECTORMedical Monitor
Genzyme, a Sanofi Company
Outcome results
None listed