Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
Study Details
Study Description
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.
Condition or Disease | Intervention/Treatment | Phase |
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Study Design
Arms and Interventions
Arm | Intervention/Treatment |
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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 |
Other: Enzyme testing
Leukocyte activity measurement of Arylsulfatase B and N acetyl galactosamine 6 sulfatase (GALNS)
|
Outcome Measures
Primary Outcome Measures
- Subjects identified with MPS IVA or VI [2 years]
Eligibility Criteria
Criteria
Inclusion Criteria:
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Less than or equal to 21 years of age
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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)
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
---|---|---|---|---|---|
1 | Children's Hospitals and Clinics of Minnesota | Minneapolis | Minnesota | United States | 55404 |
2 | Gillette Children's Specialty Healthcare | St Paul | Minnesota | United States | 55101 |
Sponsors and Collaborators
- Children's Hospitals and Clinics of Minnesota
- BioMarin Pharmaceutical
- Greenwood Genetic Center
- Gillette Children's Specialty Healthcare
Investigators
- Principal Investigator: Nancy Mendelsohn, MD, Children's Hospitals and Clinics of Minnesota
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- MPSHIP