Screening an Orthopedic Population for Mildly-affected In... | NCT01961518

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

NCT01961518

Sponsor

Greenwood Genetic Center

Status

Completed

Last Update Posted

Aug 13, 2015Estimated

Enrollment

17Actual

Phase

Not provided

Conditions

Morquio Syndrome A
Maroteaux Lamy Syndrome
MPS IVA
MPS VI

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Aug 2015

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 2013

Primary Completion Date

May 2014Actual

Completion Date

May 2015Actual

First Submitted Date

Oct 8, 2013

First Submission Date that Met QC Criteria

Oct 9, 2013

First Posted Date

Oct 11, 2013Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Aug 10, 2015

Last Update Posted Date

Aug 13, 2015Estimated

Name	Class
Shriners Hospitals for Children	OTHER
BioMarin Pharmaceutical	INDUSTRY

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

17Actual

Outcomes Module

Primary Outcomes

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 Outcomes

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

Other Outcomes

Not provided

Eligibility Module

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

18 Years

Standard Ages

ChildAdult

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.

Sampling Method

Non-Probability Sample

Name	Affiliation	Role
Richard Curtis Rogers, MD	Greenwood Genetic Center	Principal Investigator

Facility	Status	City	State	ZIP	Country	Contacts
Greenwood Genetic Center		Greenville	South Carolina	29605	United States

Condition Browse Module

MeSH Terms

ID	Term
D009085	Mucopolysaccharidosis IV
D009087	Mucopolysaccharidosis VI

Ancestor Terms

ID	Term
D009083	Mucopolysaccharidoses
D002239	Carbohydrate Metabolism, Inborn Errors
D008661	Metabolism, Inborn Errors
D030342	Genetic Diseases, Inborn

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