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

N/ACompletedNCT01961518

Greenwood Genetic Center17 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Morquio Syndrome A Maroteaux Lamy Syndrome MPS IVA MPS VI

Eligibility

Sex: ALLMax age: 18 Years

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

Prevalence of MPS IVA and MPS VI in an pediatric orthopedic population

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.

Time frame: Data will be reviewed at the end of 1 year

Secondary Outcomes

DNA and urine collection and storage in a pediatric orthopedic population

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.

Time frame: Specimen collection will occur within one year, and specimen storage will be indefinite