Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome
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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.
Condition or disease
Morquio Syndrome AMaroteaux Lamy SyndromeMPS IVAMPS VI
Prevalence of MPS IVA and MPS VI in an pediatric orthopedic population [ Time Frame: Data will be reviewed at the end of 1 year ]
The primary objective of this study is to identify patients with Morquio syndrome type A or Maroteaux-Lamy syndrome who may have been missed or misdiagnosed due to atypical clinical features, a milder course, and/or negative mucopolysaccharidosis urine screening.
Secondary Outcome Measures
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 ]
The secondary objective of this study is to obtain and keep blood and urine samples for possible future research on Morquio syndrome type A, Maroteaux-Lamy syndrome, or other related or unrelated diseases.
Biospecimen Retention: Samples With DNA
Consent will be requested for specimen storage (DNA and urine) to allow use of the specimens for future research related or unrelated to the participant's condition.
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Ages Eligible for Study:
up to 18 Years (Child, Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
We plan to recruit 75 patients who will meet chart review criteria, selected from a population of 250-300 patients in the Shriners Hospitals for Children--Greenville (SHC) database. In addition, any patients evaluated at a monthly Genetics clinic held at SHC who meet eligibility criteria will be offered enrollment in the study in person (with a goal of 15). Participants of any ethnicity and both genders will be represented in this study. Since participants will be selected from the SHC patient database, as well as Greenwood Genetic Center clinics held at SHC in Greenville, SC, study participant's geographic location will be concentrated in the Southeastern region of the United States.
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.
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.