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

MPS IVA Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01961518
• Other study ID #: GGC001
• 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

Related Conditions & MeSH terms

• Maroteaux Lamy Syndrome
• Morquio Syndrome A
• MPS IVA
• MPS VI
• Mucopolysaccharidosis IV
• Mucopolysaccharidosis VI
• Syndrome

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