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Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

NCT01707433 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 22

Last updated 2015-08-04

No results posted yet for this study

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.

Conditions

  • Mucopolysaccharidosis IV A
  • Mucopolysaccharidosis VI

Interventions

OTHER

Enzyme testing

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

Sponsors & Collaborators

  • BioMarin Pharmaceutical

    collaborator INDUSTRY

  • Greenwood Genetic Center

    collaborator OTHER

  • Gillette Children's Specialty Healthcare

    collaborator OTHER

  • Children's Hospitals and Clinics of Minnesota

    lead OTHER

Principal Investigators

  • Nancy Mendelsohn, MD · Children's Hospitals and Clinics of Minnesota

Eligibility

Max Age
21 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-10-31
Primary Completion
2015-06-30
Completion
2015-06-30

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01707433 on ClinicalTrials.gov