Ignite Creation Date:
2024-05-06 @ 1:00 AM
Last Modification Date:
2024-10-26 @ 10:57 AM
Study NCT ID:
NCT01707433
Status:
COMPLETED
Last Update Posted:
2015-08-04
First Post:
2012-10-12
Brief Title:
Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
Sponsor:
Childrens Hospitals and Clinics of Minnesota
Organization:
Childrens Hospitals and Clinics of Minnesota
Study Overview
Official Title:
Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
Status:
COMPLETED
Status Verified Date:
2015-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
BACKGROUNDOBJECTIVE 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
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:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None