Mucopolysaccharidosis IV ANCT01707433
Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
An observational study of Mucopolysaccharidosis IV A and Mucopolysaccharidosis VI, run by Children's Hospitals and Clinics of Minnesota at 2 sites in United States.
Trial summary
BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the primary method for detecting mucopolysaccharidoses in children. This method may not be sufficiently sensitive and may miss some patients with arylsulfatase B (ARSB) deficiency. Read more about this study
- Who is it for?
- Ages Up to 21 years
- Conditions the study is for
- Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
- What is being tested?
- Enzyme testing
- How many people
- 22 participants
- Where
- 2 sitesUnited States
- Study dates
- Oct 2012to Jun 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 21 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Males/females less than or equal to 21 years of age who have been seen at Gillette Children's Specialty Healthcare or Children's Hospitals and Clinics of Minnesota and carry a diagnosis of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease or bilateral proximal femoral epiphyseal dysplasia.
Who may be able to join
- Less than or equal to 21 years of age
- Diagnosis of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease or bilateral proximal femoral epiphyseal dysplasia.
Who cannot join
- Definitive etiology for above-mentioned diagnosis (i.e. other MPS disease, known chondrodysplasia, Meyer's dysplasia)
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Children's Hospitals and Clinics of Minnesota
Minneapolis, Minnesota, 55404
Gillette Children's Specialty Healthcare
Saint Paul, Minnesota, 55101
About this study
BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the primary method for detecting mucopolysaccharidoses in children. This method may not be sufficiently sensitive and may miss some patients with arylsulfatase B (ARSB) deficiency. Investigators propose to identify patients retrospectively and prospectively who carry a diagnosis of spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, bilateral proximal femoral epiphyseal dysplasia, or bilateral Legg-Calve-Perthes. For these patients, investigators will perform enzyme testing on a blood sample which will identify MPS VI or IVA.
Patients who have an earlier diagnosis of MPS are likely to have better health outcomes with medical management. Therefore, it is important to determine effective diagnostic methods. Investigators believe that bilateral hip involvement should alert the clinician to the possibility of MPS VI and further examination. The purpose of this study is to test the hypothesis that the correct diagnoses of two MPS storage disorders are delayed in patients with bilateral proximal femoral epiphyseal dysplasia and normal quantitative urine MPS studies.
- Being tested
- Enzyme testing
- Keywords
- spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, bilateral Legg Calve Perthes, bilateral proximal femoral epiphyseal dysplasia, GALNS
- Medical subject headings
- Mucopolysaccharidosis IV, Mucopolysaccharidosis VI, Osteochondrodysplasias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Enzyme testingOther
Leukocyte activity measurement of Arylsulfatase B and N acetyl galactosamine 6 sulfatase (GALNS)
| Study group | Role | What they receive |
|---|---|---|
| Diagnosis of hip disease | Diagnosed with spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease, or bilateral proximal femoral epiphyseal dysplasia Receives: Other: Enzyme testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Subjects identified with MPS IVA or VI
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Oct 2012 (estimated)
- Study startOct 2012
- Primary completionJun 2015
- Study completionJun 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucopolysaccharidosis IV 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
- Cohort
- Enrolment
- 22 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospitals and Clinics of Minnesota
- Sponsor type
- University, hospital or other
- Collaborators
- BioMarin Pharmaceutical, Greenwood Genetic Center, Gillette Children's Specialty Healthcare
- Responsible party
- Principal investigator, Nancy Mendelsohn, Children's Hospitals and Clinics of Minnesota
- Investigators
- Nancy Mendelsohn, MD, Principal investigator, Children's Hospitals and Clinics of Minnesota
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01707433
- Sponsor's protocol ID
- MPSHIP
- Status last verified
- Jul 2015
- First submitted
- 12 Oct 2012
- Last updated
- 4 Aug 2015
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Aug 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
- ClinicalTrials.gov ID
- NCT01707433
- Acronym / sponsor ID
- MPSHIP
- Keywords
- spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, bilateral Legg Calve Perthes, bilateral proximal femoral epiphyseal dysplasia, GALNS
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 22 participants (actual)
- Lead sponsor
- Children's Hospitals and Clinics of MinnesotaUniversity, hospital or other
- Collaborators
- BioMarin Pharmaceutical, Greenwood Genetic Center, Gillette Children's Specialty Healthcare
- Study start
- Oct 2012
- Primary completion
- Jun 2015 (actual)
- Study completion
- Jun 2015 (actual)
- First posted
- 16 Oct 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.
BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the primary method for detecting mucopolysaccharidoses in children. This method may not be sufficiently sensitive and may miss some patients with arylsulfatase B (ARSB) deficiency. Investigators propose to identify patients retrospectively and prospectively who carry a diagnosis of spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, bilateral proximal femoral epiphyseal dysplasia, or bilateral Legg-Calve-Perthes. For these patients, investigators will perform enzyme testing on a blood sample which will identify MPS VI or IVA.
Patients who have an earlier diagnosis of MPS are likely to have better health outcomes with medical management. Therefore, it is important to determine effective diagnostic methods. Investigators believe that bilateral hip involvement should alert the clinician to the possibility of MPS VI and further examination. The purpose of this study is to test the hypothesis that the correct diagnoses of two MPS storage disorders are delayed in patients with bilateral proximal femoral epiphyseal dysplasia and normal quantitative urine MPS studies.
Study design
- Observational model
- Cohort
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Diagnosis of hip disease | – | Other: Enzyme testingDiagnosed with spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease, or bilateral proximal femoral epiphyseal dysplasia |
Who may qualify
- Ages
- Up to 21 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Males/females less than or equal to 21 years of age who have been seen at Gillette Children's Specialty Healthcare or Children's Hospitals and Clinics of Minnesota and carry a diagnosis of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease or bilateral proximal femoral epiphyseal dysplasia.
Key inclusion criteria (2 listed)
- Less than or equal to 21 years of age
- Diagnosis of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease or bilateral proximal femoral epiphyseal dysplasia.
Key exclusion criteria (1 listed)
- Definitive etiology for above-mentioned diagnosis (i.e. other MPS disease, known chondrodysplasia, Meyer's dysplasia)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Enzyme testingLeukocyte activity measurement of Arylsulfatase B and N acetyl galactosamine 6 sulfatase (GALNS) | Other | Diagnosis of hip disease |
Primary outcome
Subjects identified with MPS IVA or VI
Time frame: 2 years
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 4 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.
Nancy Mendelsohn, MD principal investigator
Children's Hospitals and Clinics of Minnesota
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mucopolysaccharidosis IV A and Mucopolysaccharidosis VI, run by Children's Hospitals and Clinics of Minnesota at 2 sites 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 2 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: finished, as of the sponsor's last update on 4 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 2 sites 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?
Subjects identified with MPS IVA or VI (time frame: 2 years). 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 4 Aug 2015.