Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome
| Status: | Completed |
|---|---|
| Conditions: | Orthopedic, Endocrine, Metabolic |
| Therapuetic Areas: | Endocrinology, Pharmacology / Toxicology, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | Any - 18 |
| Updated: | 4/21/2016 |
| Start Date: | October 2013 |
| End Date: | May 2015 |
Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome
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.
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.
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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