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

Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type 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.

Study Overview

• Status: Completed
• Conditions: MPS IVA; Maroteaux Lamy Syndrome; MPS VI; Morquio Syndrome A

• Study Type: Observational
• Enrollment (Actual): 17

Contacts and Locations

Study Locations

• United States
  • South Carolina
    • Greenville, South Carolina, United States, 29605
      • Greenwood Genetic Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 18 years (ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Greenwood Genetic Center
• Collaborators: Shriners Hospitals for Children; BioMarin Pharmaceutical
• Investigators: Principal Investigator: Richard Curtis Rogers, MD, Greenwood Genetic Center

Study record dates

Study Major Dates

• Study Start: October 1, 2013
• Primary Completion (Actual): May 1, 2014
• Study Completion (Actual): May 1, 2015

Study Registration Dates

• First Submitted: October 8, 2013
• First Submitted That Met QC Criteria: October 9, 2013
• First Posted (Estimate): October 11, 2013

Study Record Updates

• Last Update Posted (Estimate): August 13, 2015
• Last Update Submitted That Met QC Criteria: August 10, 2015
• Last Verified: August 1, 2015

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Disease; Genetic Diseases, Inborn; Musculoskeletal Diseases; Connective Tissue Diseases; Bone Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Bone Diseases, Developmental; Mucopolysaccharidoses; Syndrome; Osteochondrodysplasias; Mucopolysaccharidosis IV; Mucopolysaccharidosis VI
• Other Study ID Numbers: GGC001