Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome 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.
Morquio Syndrome A
Maroteaux Lamy Syndrome
|Study Design:||Observational Model: Case-Only
Time Perspective: Retrospective
|Official Title:||Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome|
- Prevalence of MPS IVA and MPS VI in an pediatric orthopedic population [ Time Frame: Data will be reviewed at the end of 1 year ] [ Designated as safety issue: No ]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.
- 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 ] [ Designated as safety issue: No ]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.
|Study Start Date:||October 2013|
|Study Completion Date:||May 2015|
|Primary Completion Date:||May 2014 (Final data collection date for primary outcome measure)|
Please refer to this study by its ClinicalTrials.gov identifier: NCT01961518
|United States, South Carolina|
|Greenwood Genetic Center|
|Greenville, South Carolina, United States, 29605|
|Principal Investigator:||Richard Curtis Rogers, MD||Greenwood Genetic Center|