Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

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Trial Status Completed

Trial Identifier

NCT01707433

Condition

MPS IVA, MPS VI, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI

The below information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. and has not been edited.

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.

Eligibility Criteria

Birth Sex

All

Age

Up to 21 Years

Healthy Volunteers

No

Drug/Treatment:

Enzyme testing

Study Type:

Observational

Number of Participants:

22

Study Started:

2012-10

Study Updated:

2015-08-04

Trial Locations

  • Children's Hospitals and Clinics of Minnesota

    Minneapolis, Minnesota, United States

  • Gillette Children's Specialty Healthcare

    St Paul, Minnesota, United States

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

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