Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

Completed

Conditions studied: Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI

In brief

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.

Key facts

Study ID

NCT01707433

Run by

Children's Hospitals and Clinics of Minnesota

People needed

22

Starts

2012-10-01

Expected to finish

2015-06-01

Last updated by the study team

2015-08-04

Who can join

Age: any, up to 21. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• Definitive etiology for above-mentioned diagnosis (i.e. other MPS disease, known chondrodysplasia, Meyer's dysplasia)

Where it is running

• Children's Hospitals and Clinics of Minnesota — Minneapolis, Minnesota, United States
• Gillette Children's Specialty Healthcare — Saint Paul, Minnesota, United States

Full record on ClinicalTrials.gov

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