Mucopolysaccharidosis I (MPS I) Registry
Study on Mucopolysaccharidosis I, a Rare Genetic Disorder
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)
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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.
This study investigates Mucopolysaccharidosis I (MPS I), a rare genetic disorder. The purpose of this observational study is to collect data about the natural history and progression of MPS I and to understand how different treatments affect patients. An observational study is a type of research study where data is collected by observing participants receiving routine care, without changing their treatment, which may focus on people using specific medications or having certain conditions to better understand how treatments work. Participants will be in the study for as long as they choose to provide data, with no set end date.
The study involves collecting information about patients' health and treatment outcomes. This includes tracking the effectiveness and safety of treatments like enzyme replacement therapy. Patients' medical records and health data will be recorded and analyzed to help improve care and treatment recommendations for people with MPS I.
- Who can participate: Patients of any age with a confirmed diagnosis of MPS I can join the study. A confirmed diagnosis includes evidence of enzyme deficiency or genetic mutations related to the condition. Participants must complete a patient authorization form.
- Study details: Participants will provide health information and treatment details that will be used to track the progression of MPS I. The study does not involve any changes to current treatments, as it is observational.
