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

This study has been completed.
Shriners Hospitals for Children
BioMarin Pharmaceutical
Information provided by (Responsible Party):
R. Curtis Rogers, Greenwood Genetic Center Identifier:
First received: October 8, 2013
Last updated: August 10, 2015
Last verified: August 2015
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 Type: Observational
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

Resource links provided by NLM:

Further study details as provided by Greenwood Genetic Center:

Primary Outcome Measures:
  • 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.

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 ] [ 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.

Enrollment: 17
Study Start Date: October 2013
Study Completion Date: May 2015
Primary Completion Date: May 2014 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   up to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
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.

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01961518

United States, South Carolina
Greenwood Genetic Center
Greenville, South Carolina, United States, 29605
Sponsors and Collaborators
Greenwood Genetic Center
Shriners Hospitals for Children
BioMarin Pharmaceutical
Principal Investigator: Richard Curtis Rogers, MD Greenwood Genetic Center
  More Information

No publications provided

Responsible Party: R. Curtis Rogers, Senior Clinical Geneticst, Greenwood Genetic Center Identifier: NCT01961518     History of Changes
Other Study ID Numbers: GGC001
Study First Received: October 8, 2013
Last Updated: August 10, 2015
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
Bone Diseases
Bone Diseases, Developmental
Carbohydrate Metabolism, Inborn Errors
Connective Tissue Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Musculoskeletal Diseases
Pathologic Processes processed this record on November 25, 2015