Mucopolysaccharidosis Type IVANCT01733615
Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA
An observational study of Mucopolysaccharidosis Type IVA, run by Emory University at 1 site in United States.
Trial summary
The purpose of this study is to find out more about some of the unusual chemicals (called oligosaccharides) that can occur naturally as a result of processes in the body. Researchers want to look at how these chemicals change with time and how they change between different patients with MPSIVA. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Mucopolysaccharidosis Type IVA
- How many people
- 3 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2012to Feb 2013
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Newly diagnosed or untreated Mucopolysaccharidosis IVA patients across the nation collected from national major genetic laboratories, national major genetic clinics, Includes the Emory Genetics Clinic, Mayo Clinic, UPMC, Children's Hospital of Philadelphia, and Nationwide Children's Center in Washington, DC.
Who may be able to join
- Diagnosis of Mucopolysaccharidosis IVA
Who cannot join
- Patients receiving enzyme replacement therapy.
Trial locations and contacts
1 site in 1 country.
United States1 site
Emory University, Dept of Human Genetics
Decatur, Georgia, 30033
About this study
Official title: Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA)
The purpose of this study is to find out more about some of the unusual chemicals (called oligosaccharides) that can occur naturally as a result of processes in the body. Researchers want to look at how these chemicals change with time and how they change between different patients with MPSIVA. These unusual chemicals were recently discovered in the urine from patients with MPSIVA. The investigators would like to study these chemicals before a specific enzyme replacement therapy is used. If the investigators understand how these chemicals change, the investigators may be able to use them to monitor this condition in the near future as well as help doctors know whether certain therapies work well in their patients.
Read the detailed description
This is not a clinical trial and there is no outcome measurement. The biomarkers in this study are oligosaccharides that secreted in the urine from patients with MPSIVa. In this study, we will try to define the variability of these oligosaccharides in the same patient at different time points, including different month of a year and different collections during the day as well as variations of these oligosaccharide in different affected patients.
- Conditions
- Mucopolysaccharidosis Type IVA
- Keywords
- Mucopolysaccharidosis Type IVA, Mucopolysaccharidosis Type IV, MPS Type IVA, MPS Type IV, Morquio Syndrome, Morquio Syndrome Type A, Urine biomarkers
- Medical subject headings
- Mucopolysaccharidosis IV
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Mucopolysaccharidosis IVA | Patients with the condition. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Quantification of urinary oligosaccharides in urine from a first morning void in patients with Mucopolysaccharidosis IVA.
The variability of oligosaccharides in the same patient over different time points and urine specimen type will be evaluated.
Measured: Every 2 months over the course of a year.
Secondary outcomes (1)
Quantification of urinary oligosaccharides in urine from a random collection in patients with Mucopolysaccharidosis IVA.
The variability of oligosaccharides among different patients with MPSIVa will be evaluated.
Measured: One urine over the course of a year or 6M
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Nov 2012 (estimated)
- Study startJun 2012
- Primary completionFeb 2013
- Study completionFeb 2013
Why it stopped: Original PI relocated to another institution
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Mucopolysaccharidosis Type IVAStudies of the same condition, open and under way.
- More trials run by Emory UniversityThe sponsor's other registered studies.
- 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
- Prospective
- Enrolment
- 3 participants (actual)
Sponsor and investigators
- Lead sponsor
- Emory University
- Sponsor type
- University, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Responsible party
- Principal investigator, Madhuri Hegde, Emory University
- Investigators
- Madhuri Hegde, PhD, FACMG, Principal investigator, Emory University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01733615
- Sponsor's protocol ID
- IRB00058450
- Status last verified
- Sep 2014
- First submitted
- 21 Nov 2012
- Last updated
- 4 Sep 2014
- Results posted
- No
- Data monitoring committee
- No
Publications
Tiede S, Storch S, Lubke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med. 2005 Oct;11(10):1109-12. doi: 10.1038/nm1305. Epub 2005 Oct 2.
PubMed 16200072Walkley SU, Thrall MA, Haskins ME, Mitchell TW, Wenger DA, Brown DE, Dial S, Seim H. Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease. Neuropathol Appl Neurobiol. 2005 Oct;31(5):536-44. doi: 10.1111/j.1365-2990.2005.00675.x.
PubMed 16150124
Study at a glance
From the registry record, last updated by the sponsor on 4 Sep 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA)
- ClinicalTrials.gov ID
- NCT01733615
- Acronym / sponsor ID
- IRB00058450
- Conditions
- Mucopolysaccharidosis Type IVA
- Keywords
- Mucopolysaccharidosis Type IVA, Mucopolysaccharidosis Type IV, MPS Type IVA, MPS Type IV, Morquio Syndrome, Morquio Syndrome Type A, Urine biomarkers
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Original PI relocated to another institution
- Enrolment
- 3 participants (actual)
- Lead sponsor
- Emory UniversityUniversity, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Study start
- Jun 2012
- Primary completion
- Feb 2013 (actual)
- Study completion
- Feb 2013 (actual)
- First posted
- 27 Nov 2012 (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 find out more about some of the unusual chemicals (called oligosaccharides) that can occur naturally as a result of processes in the body. Researchers want to look at how these chemicals change with time and how they change between different patients with MPSIVA. These unusual chemicals were recently discovered in the urine from patients with MPSIVA. The investigators would like to study these chemicals before a specific enzyme replacement therapy is used. If the investigators understand how these chemicals change, the investigators may be able to use them to monitor this condition in the near future as well as help doctors know whether certain therapies work well in their patients.
Detailed description
This is not a clinical trial and there is no outcome measurement. The biomarkers in this study are oligosaccharides that secreted in the urine from patients with MPSIVa. In this study, we will try to define the variability of these oligosaccharides in the same patient at different time points, including different month of a year and different collections during the day as well as variations of these oligosaccharide in different affected patients.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Mucopolysaccharidosis IVA | – | –Patients with the condition. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Newly diagnosed or untreated Mucopolysaccharidosis IVA patients across the nation collected from national major genetic laboratories, national major genetic clinics, Includes the Emory Genetics Clinic, Mayo Clinic, UPMC, Children's Hospital of Philadelphia, and Nationwide Children's Center in Washington, DC.
Key inclusion criteria (1 listed)
- Diagnosis of Mucopolysaccharidosis IVA
Key exclusion criteria (1 listed)
- Patients receiving enzyme replacement therapy.
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
Quantification of urinary oligosaccharides in urine from a first morning void in patients with Mucopolysaccharidosis IVA.
Time frame: Every 2 months over the course of a year.
The variability of oligosaccharides in the same patient over different time points and urine specimen type will be evaluated.
1 secondary outcome
Quantification of urinary oligosaccharides in urine from a random collection in patients with Mucopolysaccharidosis IVA.
Time frame: One urine over the course of a year or 6M
Results and safety
The study was stopped early (reason given: Original PI relocated to another institution). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Sep 2014.
- Background: PubMed 16200072Tiede S, Storch S, Lubke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med. 2005 Oct;11(10):1109-12. doi: 10.1038/nm1305. Epub 2005 Oct 2.
- Background: PubMed 16150124Walkley SU, Thrall MA, Haskins ME, Mitchell TW, Wenger DA, Brown DE, Dial S, Seim H. Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease. Neuropathol Appl Neurobiol. 2005 Oct;31(5):536-44. doi: 10.1111/j.1365-2990.2005.00675.x.
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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.
Madhuri Hegde, PhD, FACMG principal investigator
Emory University
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 Mucopolysaccharidosis Type IVA, run by Emory University 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 1 inclusion and 1 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: stopped early, as of the sponsor's last update on 4 Sep 2014. 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 was stopped early (reason given: Original PI relocated to another institution). Results are not available in the source record.
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?
Quantification of urinary oligosaccharides in urine from a first morning void in patients with Mucopolysaccharidosis IVA. (time frame: Every 2 months over the course of a year.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01733615, which also lists 2 linked publications.
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 4 Sep 2014.