Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

22 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-10-31

Study Completion Date

2015-06-30

Brief Summary

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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.

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Detailed Description

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Conditions

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Mucopolysaccharidosis IV A Mucopolysaccharidosis VI

Study Design

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Observational Model Type

COHORT

Study Groups

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Diagnosis of hip disease

Diagnosed with spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease, or bilateral proximal femoral epiphyseal dysplasia

Enzyme testing

Intervention Type OTHER

Leukocyte activity measurement of Arylsulfatase B and N acetyl galactosamine 6 sulfatase (GALNS)

Interventions

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Enzyme testing

Leukocyte activity measurement of Arylsulfatase B and N acetyl galactosamine 6 sulfatase (GALNS)

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Less than or equal to 21 years of age
* Diagnosis of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease or bilateral proximal femoral epiphyseal dysplasia.