Clinical trial NCT01961518: Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome
Official title: Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Morquio Syndrome A
Maroteaux Lamy Syndrome
MPS IVA
MPS VI
Lead sponsor: Greenwood Genetic Center
Sponsor class: OTHER
Collaborators: name: Shriners Hospitals for Children
name: BioMarin Pharmaceutical
First posted: 2013-10-11
Enrollment: 17
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
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.

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.


Eligibility 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.

Primary outcomes:
measure: Prevalence of MPS IVA and MPS VI in an pediatric orthopedic population
timeFrame: Data will be reviewed at the end of 1 year
Secondary outcomes:
measure: DNA and urine collection and storage in a pediatric orthopedic population
timeFrame: Specimen collection will occur within one year, and specimen storage will be indefinite
Other outcomes:
Locations:
city: Greenville
country: United States
facility: Greenwood Genetic Center
state: South Carolina
Study officials:
affiliation: Greenwood Genetic Center
name: Richard Curtis Rogers, MD
role: PRINCIPAL_INVESTIGATOR
References: