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

NCT01961518 | Completed

• 1 other identifier: GGC001
• Study Type: observational
• Target: 17
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Morquio Syndrome A; Maroteaux Lamy Syndrome; MPS IVA; MPS VI

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• DNA and urine collection and storage in a pediatric orthopedic population

  Specimen collection will occur within one year, and specimen storage will be indefinite

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• If we are unable to obtain the necessary specimens, the participant will be removed from the study.

Sponsors & Collaborators

• Greenwood Genetic Center: lead
• Shriners Hospitals for Children: collaborator
• BioMarin Pharmaceutical: collaborator

Study Sites (1)

Greenwood Genetic Center

Greenville, South Carolina, 29605, United States

Location

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.

MeSH Terms

Conditions

Mucopolysaccharidosis IV; Mucopolysaccharidosis VI

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Richard Curtis Rogers, MD

  Greenwood Genetic Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Senior Clinical Geneticst

Study Record Dates

• First Submitted: October 8, 2013
• First Posted: October 11, 2013
• Study Start: October 1, 2013
• Primary Completion: May 1, 2014
• Study Completion: May 1, 2015
• Last Updated: August 13, 2015

Record last verified: 2015-08

Locations

US (1)