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Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

Mucopolysaccharidosis VI Clinical Trial

Official title:
Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

Clinical Trial Summary

BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the primary method for detecting mucopolysaccharidoses in children. This method may not be sufficiently sensitive and may miss some patients with arylsulfatase B (ARSB) deficiency. Investigators propose to identify patients retrospectively and prospectively who carry a diagnosis of spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, bilateral proximal femoral epiphyseal dysplasia, or bilateral Legg-Calve-Perthes. For these patients, investigators will perform enzyme testing on a blood sample which will identify MPS VI or IVA.

Patients who have an earlier diagnosis of MPS are likely to have better health outcomes with medical management. Therefore, it is important to determine effective diagnostic methods. Investigators believe that bilateral hip involvement should alert the clinician to the possibility of MPS VI and further examination. The purpose of this study is to test the hypothesis that the correct diagnoses of two MPS storage disorders are delayed in patients with bilateral proximal femoral epiphyseal dysplasia and normal quantitative urine MPS studies.

Clinical Trial Description

n/a

Study Design

Observational Model: Cohort

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT01707433
Study type Observational
Source Children's Hospitals and Clinics of Minnesota
Contact
Status Completed
Phase N/A
Start date October 2012
Completion date June 2015
View Details
See also
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