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

NCT01961518 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 17

Last updated 2015-08-13

No results posted yet for this study

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

Sponsors & Collaborators

  • Shriners Hospitals for Children

    collaborator OTHER

  • BioMarin Pharmaceutical

    collaborator INDUSTRY

  • Greenwood Genetic Center

    lead OTHER

Principal Investigators

  • Richard Curtis Rogers, MD · Greenwood Genetic Center

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-10-31
Primary Completion
2014-05-31
Completion
2015-05-31

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01961518 on ClinicalTrials.gov