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.

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Key information

Conditions

Morquio Syndrome A Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Lysosomal Storage Diseases MPS IVA MPS VI Maroteaux Lamy Syndrome Metabolic Diseases Metabolism, Inborn Errors Mucinoses Mucopolysaccharidoses Mucopolysaccharidosis IV Mucopolysaccharidosis VI Nutritional and Metabolic Diseases Skin and Connective Tissue Diseases

Age range

Up to 18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Greenwood Genetic Center

Greenville, South Carolina, 29605, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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 outcomes

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.

Sponsors and collaborators

Lead sponsor

Greenwood Genetic Center

Other

Collaborators

BioMarin Pharmaceutical
Shriners Hospitals for Children

Registry information

Official study title

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

Important dates

Study start: 2013
Primary completion: 2014
Study completion: 2015
First posted: Oct 11, 2013
Registry last updated: Aug 13, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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