The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
Section snippets
Overview of the MPS I registry program
The MPS I Registry (www.MPSIregistry.com) is a voluntary program designed to collect data from routine clinical and laboratory assessments related to the onset, progression, and outcomes of MPS I disease among the global patient population for a period of at least 15 years. Only observational data are acquired; no experimental interventions are involved. All patient and physician information entered into the MPS I Registry database remains confidential in compliance with international
Patient enrollment and physician participation
The MPS I Registry program was launched in June 2003, and patient enrollment began in October 2003. Data presented in this report are derived from the first 302 patients enrolled; for all patients, the diagnosis of MPS I was confirmed by enzyme assay or mutation analysis. Table 3 lists the 24 countries of origin for the patients, with the majority residing in North American and European countries. The patients were enrolled by 84 physicians, most of whom specialize in the fields of pediatrics
Discussion
The MPS I Registry has emerged as the largest computerized database for monitoring the clinical progression of MPS I disease worldwide. As demonstrated by this overview of the first 302 patients enrolled in the Registry, the design and methodology of the program have enabled acquisition of a population sample that is diverse in its composition and representative of the heterogeneous nature of MPS I. Furthermore, the first descriptive and cross-sectional analyses of this patient sample have
Acknowledgments
The MPSI Registry is funded by the BioMarin/Genzyme LLC. The paper is dedicated to the memory of Dr. William Krivit, a pioneer in the field who made significant contributions to advancing the care of patients with MPS I.
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2022, Molecular Genetics and MetabolismCitation Excerpt :Individuals with the same enzymatic deficiency, but the later onset of clinical symptoms, are diagnosed with Scheie (mild) and Hurler-Scheie (intermediate) syndromes. As no biochemical differences have been found and clinical manifestations in Scheie and Hurler-Scheie syndromes overlap, both are referred to collectively as MPS I attenuated (MPS IA) [5,18]. Intravenous recombinant enzyme replacement therapy (ERT) is the standard of care for patients with MPS IA, as it improves somatic aspects of the disease [19].
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2021, JACC: Case ReportsCitation Excerpt :Classic MPS type I, also called Hurler syndrome, is particularly severe, often causing death in untreated patients before their teenage years (2). Scheie syndrome is a milder form of MPS type I characterized by central nervous system (CNS) sparing with primarily peripheral involvement, often leading to later diagnoses and longer life spans (2). Our patient’s genetic profile may explain his unique phenotype and longevity.