NCT01961518

Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome

Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 17 (actual)
• Sponsor: Greenwood Genetic Center · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Morquio Syndrome A
• Maroteaux Lamy Syndrome
• MPS IVA
• MPS VI

Timeline

• Start date: 2013-10-01
• Primary completion: 2014-05-01
• Completion: 2015-05-01
• First posted: 2013-10-11
• Last updated: 2015-08-13

Locations

1 site across 1 country: United States