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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01961518
First Posted: October 11, 2013
Last Update Posted: August 13, 2015
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborators:
Shriners Hospitals for Children
BioMarin Pharmaceutical
Information provided by (Responsible Party):
R. Curtis Rogers, Greenwood Genetic Center
  Purpose
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
Morquio Syndrome A Maroteaux Lamy Syndrome MPS IVA MPS VI

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 R. Curtis Rogers, 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 ]
    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.

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)
  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
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.
Criteria

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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01961518


Locations
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
Investigators
Principal Investigator: Richard Curtis Rogers, MD Greenwood Genetic Center
  More Information

Responsible Party: R. Curtis Rogers, Senior Clinical Geneticst, Greenwood Genetic Center
ClinicalTrials.gov Identifier: NCT01961518     History of Changes
Other Study ID Numbers: GGC001
First Submitted: October 8, 2013
First Posted: October 11, 2013
Last Update Posted: August 13, 2015
Last Verified: August 2015

Additional relevant MeSH terms:
Mucopolysaccharidosis IV
Osteochondrodysplasias
Syndrome
Mucopolysaccharidosis VI
Disease
Pathologic Processes
Mucopolysaccharidoses
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases