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

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Trial Status Completed

Trial Identifier

NCT01961518

Condition

MPS IVA, MPS VI, Maroteaux-Lamy Syndrome, Morquio Syndrome A

The below information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. and has not been edited.

Trial 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.

Eligibility Criteria

Birth Sex

All

Age

Up to 18 Years

Healthy Volunteers

No

Study Type:

Observational

Number of Participants:

17

Study Started:

2013-10

Study Updated:

2015-08-13

Trial Locations

  • Greenwood Genetic Center

    Greenville, South Carolina, United States

Inclusion Criteria

  • Eligible participants must currently receive care in the Shriners Hospitals for Children system, and therefore, will be under 19 years of age.
  • Eligible participants must have one of the following diagnoses: bilateral Legg-Calve-Perthes disease, bilateral hip dysplasia, multiple joint pain, unidentified skeletal dysplasia
  • Eligible participants (or legal guardian) must be able and willing to sign informed consent/assent in English or Spanish.

Exclusion Criteria

  • Participants with one or more or the above inclusion diagnoses who have a specific etiologic diagnosis will not be eligible to participate in this study.
  • If we are unable to obtain the necessary specimens, the participant will be removed from the study

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