Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

Mucopolysaccharidosis VI Clinical Trial

Official title:

Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01707433
• Other study ID #: MPSHIP
• Status: Completed
• Phase: N/A
• First received: October 12, 2012
• Last updated: July 31, 2015
• Start date: October 2012
• Est. completion date: June 2015

Study information

• Verified date: July 2015
• Source: Children's Hospitals and Clinics of Minnesota
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 22
• Est. completion date: June 2015
• Est. primary completion date: June 2015
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A to 21 Years

Eligibility

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

Observational Model: Cohort

Related Conditions & MeSH terms

• Mucopolysaccharidoses
• Mucopolysaccharidosis IV
• Mucopolysaccharidosis IV A
• Mucopolysaccharidosis VI

Intervention

Other:
• Enzyme testing
Leukocyte activity measurement of Arylsulfatase B and N acetyl galactosamine 6 sulfatase (GALNS)

Locations

Country	Name	City	State
United States	Children's Hospitals and Clinics of Minnesota	Minneapolis	Minnesota
United States	Gillette Children's Specialty Healthcare	St Paul	Minnesota

Sponsors (4)

Lead Sponsor	Collaborator
Children's Hospitals and Clinics of Minnesota	BioMarin Pharmaceutical, Gillette Children's Specialty Healthcare, Greenwood Genetic Center

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Subjects identified with MPS IVA or VI		2 years	No