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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT01961518
Other study ID # GGC001
Secondary ID
Status Completed
Phase N/A
First received October 8, 2013
Last updated August 10, 2015
Start date October 2013
Est. completion date May 2015

Study information

Verified date August 2015
Source Greenwood Genetic Center
Contact n/a
Is FDA regulated No
Health authority United States: Institutional Review Board
Study type Observational

Clinical Trial Summary

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.


Recruitment information / eligibility

Status Completed
Enrollment 17
Est. completion date May 2015
Est. primary completion date May 2014
Accepts healthy volunteers No
Gender Both
Age group N/A to 18 Years
Eligibility 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.

Study Design

Observational Model: Case-Only, Time Perspective: Retrospective


Locations

Country Name City State
United States Greenwood Genetic Center Greenville South Carolina

Sponsors (3)

Lead Sponsor Collaborator
Greenwood Genetic Center BioMarin Pharmaceutical, Shriners Hospitals for Children

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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. Data will be reviewed at the end of 1 year No
Secondary 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. Specimen collection will occur within one year, and specimen storage will be indefinite No
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Terminated NCT01609062 - Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome Phase 2
Approved for marketing NCT01858103 - BMN 110 US Expanded Access Program N/A