Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

Completed

• Conditions: Mucopolysaccharidosis VI; Mucopolysaccharidosis IV A
• Interventions: Other: Enzyme testing

• Registration Number: NCT01707433
• Lead Sponsor: Children's Hospitals and Clinics of Minnesota

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2012-10
• Study First Submitted: 2012-10-12
• Study First Submitted QC: 2012-10-12
• Study First Posted: 2012-10-16
• Primary Completion: 2015-06
• Study Completion: 2015-06
• Status Verified: 2015-07
• Last Update Submitted: 2015-07-31
• Last Update Posted: 2015-08-04

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 22

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.

Exclusion Criteria

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Diagnosis of hip disease	Enzyme testing	Diagnosed with spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease, or bilateral proximal femoral epiphyseal dysplasia

Primary Outcome Measures

Name	Time	Method
Subjects identified with MPS IVA or VI	2 years

Trial Locations

Locations (2)

Gillette Children's Specialty Healthcare; 🇺🇸 St Paul, Minnesota, United States

Children's Hospitals and Clinics of Minnesota; 🇺🇸 Minneapolis, Minnesota, United States