Clinical Trial: Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome
Brief Summary: The purpose of this study is to identify patients with Morquio syndrome type A (MPS IVA) and Maroteaux-Lamy syndrome (MPS VI) who may have been missed or misdiagnosed due to atypical clinical features, a milder course, and/or negative urine screening. We will recruit participants who have certain hip and/or joint problems that could potentially be caused by one of these two genetic conditions through a chart review process conducted at Shriners Hospital for Children in Greenville, SC. Diagnostic testing will be performed for each participant to determine if he or she is affected by one of these two conditions. Results will be disclosed to all participants and their legal guardians, and appropriate follow up will be recommended for those who are found to have abnormal results.
Detailed Summary:
Sponsor: Greenwood Genetic Center
Current Primary Outcome: Prevalence of MPS IVA and MPS VI in an pediatric orthopedic population [ Time Frame: Data will be reviewed at the end of 1 year ]
Original Primary Outcome: Same as current
Current Secondary Outcome: DNA and urine collection and storage in a pediatric orthopedic population [ Time Frame: Specimen collection will occur within one year, and specimen storage will be indefinite ]
Original Secondary Outcome: Same as current
Information By: Greenwood Genetic Center
Dates:
Date Received: October 8, 2013
Date Started: October 2013
Date Completion:
Last Updated: August 10, 2015
Last Verified: August 2015