Morquio Syndrome ANCT01961518
Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome
An observational study of Morquio Syndrome A and Maroteaux Lamy Syndrome, run by Greenwood Genetic Center at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Morquio Syndrome A, Maroteaux Lamy Syndrome, MPS IVA
- How many people
- 17 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2013to May 2015
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Greenwood Genetic Center
Greenville, South Carolina, 29605
About this study
Official title: 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.
- Conditions
- Morquio Syndrome A, Maroteaux Lamy Syndrome, MPS IVA, MPS VI
- Medical subject headings
- Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Data will be reviewed at the end of 1 year
Secondary outcomes (1)
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.
Measured: Specimen collection will occur within one year, and specimen storage will be indefinite
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Oct 2013 (estimated)
- Study startOct 2013
- Primary completionMay 2014
- Study completionMay 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Morquio Syndrome AStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 17 participants (actual)
Sponsor and investigators
- Lead sponsor
- Greenwood Genetic Center
- Sponsor type
- University, hospital or other
- Collaborators
- Shriners Hospitals for Children, BioMarin Pharmaceutical
- Responsible party
- Principal investigator, R. Curtis Rogers, Greenwood Genetic Center
- Investigators
- Richard Curtis Rogers, MD, Principal investigator, Greenwood Genetic Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01961518
- Sponsor's protocol ID
- GGC001
- Status last verified
- Aug 2015
- First submitted
- 8 Oct 2013
- Last updated
- 13 Aug 2015
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Aug 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome
- ClinicalTrials.gov ID
- NCT01961518
- Acronym / sponsor ID
- GGC001
- Conditions
- Morquio Syndrome A, Maroteaux Lamy Syndrome, MPS IVA, MPS VI
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 17 participants (actual)
- Lead sponsor
- Greenwood Genetic CenterUniversity, hospital or other
- Collaborators
- Shriners Hospitals for Children, BioMarin Pharmaceutical
- Study start
- Oct 2013
- Primary completion
- May 2014 (actual)
- Study completion
- May 2015 (actual)
- First posted
- 11 Oct 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Prevalence of MPS IVA and MPS VI in an pediatric orthopedic population
Time frame: Data will be reviewed at the end of 1 year
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.
1 secondary outcome
DNA and urine collection and storage in a pediatric orthopedic population
Time frame: Specimen collection will occur within one year, and specimen storage will be indefinite
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Aug 2015.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Richard Curtis Rogers, MD principal investigator
Greenwood Genetic Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Morquio Syndrome A and Maroteaux Lamy Syndrome, run by Greenwood Genetic Center at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Aug 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of MPS IVA and MPS VI in an pediatric orthopedic population (time frame: Data will be reviewed at the end of 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Aug 2015.