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MPS I Registry - Article


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Patau syndrome

Bartholin-Patau syndrome; Chromosomal imbalance syndrome, pair 13, trisomy; chromosome 13 trisomy syndrome; D1 Trisomy; Trisomy 13 syndrome


Clinical Trial: MPS I Registry

This study is currently recruiting patients.
Verified by Genzyme September 2005

Sponsors and Collaborators: Genzyme
BioMarin/Genzyme LLC
Information provided by: Genzyme
ClinicalTrials.gov Identifier: NCT00144794

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 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 or other treatment modalities.
Condition Intervention Phase
Mucopolysaccharidosis I
Hurler''''s Syndrome
Hurler-Scheie Syndrome
Scheie Syndrome
 Procedure: Aldurazyme (Recombinant Human Alpha-L-Iduronidase)
Phase IV

MedlinePlus related topics:  Metabolic Disorders

Study Type: Observational
Study Design: Natural History, Longitudinal, Case Control, Retrospective/Prospective Study

Further Study Details: 

Study start: October 2003
Last follow-up: October 2018

Eligibility

Genders Eligible for Study:  Both
Criteria

Inclusion Criteria:

  • All patients with a confirmed diagnosis of MPS I are eligible for inclusion:

confirmed diagnosis is defined as: documented biochemical evidence of a deficiency in a-L-iduronidase enzyme activity and/or mutation and/or mutations(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 in this Registry

Location and Contact Information

Please refer to this study by ClinicalTrials.gov identifier  NCT00144794

Medical Information      800-745-4447    medinfo@genzyme.com
Medical Information      617-252-7832    medinfo@genzyme.com

California
      Children''''s Hospital Los Angeles, Los Angeles,  California,  90027,  United States; Recruiting

Minnesota
      Gene Therapy Center, Minneapolis,  Minnesota,  55455,  United States; Recruiting

More Information

Study ID Numbers:  MPS I Registry
Last Updated:  September 2, 2005
Record first received:  September 2, 2005
ClinicalTrials.gov Identifier:  NCT00144794
Health Authority: United States: Food and Drug Administration
ClinicalTrials.gov processed this record on 2005-09-06


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October 10, 2008



Page Updated: September 6, 2005
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