Mucopolysaccharidosis IVNCT02153255
Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa
An observational study of Mucopolysaccharidosis IV and Morquio A Disease, run by Birmingham Women's and Children's NHS Foundation Trust at 1 site in United Kingdom.
Trial summary
Mucopolysaccharidosis Type IVa (MPS IVa, Morquio Disease) is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme galactose-6-sulfatase. Children with this disease accumulate a chemical called keratan sulphate, which stops their skeletons developing properly. Read more about this study
- Who is it for?
- Ages 6 to 18 years
- Conditions the study is for
- Mucopolysaccharidosis IV, Morquio A Disease
- How many people
- 0 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- Jul 2016to Jul 2016
- 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 6 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Children With Mucopolysaccharidosis Type IVa
Who may be able to join
- Confirmed diagnosis of MPS IVa (documented history of reduced leucocyte GALNS enzyme activity relative to the normal range of the laboratory performing the assay AND/OR molecular analysis showing two pathogenic mutations in the GALNS gene)
- Willing and able to provide written assent and parent/legal guardian able to provide written informed consent after the nature of the study has been explained and prior to any research-related procedures
- Between 6 and 18 years of age inclusive
- Willing to perform all study procedures as far as physically possible
Who cannot join
- Inability to comply with Gait Analysis protocol (e.g. nonambulant)
- Recent orthopaedic surgery that investigator deems might impact on Gait Analysis
- Use of any investigational product or investigational medical device other than BMN110 within 30 days prior to recruitment, or requirement for any investigational agent other than BMN110 prior to completion of all scheduled study assessments
- Concurrent disease or condition that would interfere with study participation or safety
- Any condition that, in the view of the Principal or Subinvestigators, places the subject at high risk of not completing the study procedures
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site
Birmingham Children's Hospital NHS Foundation Trust
Birmingham, West Midlands, B4 6NH
About this study
Mucopolysaccharidosis Type IVa (MPS IVa, Morquio Disease) is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme galactose-6-sulfatase.
Children with this disease accumulate a chemical called keratan sulphate, which stops their skeletons developing properly. They are very short in stature and many of their joints are unstable. Children with MPS IVa walk in a different way to other people due to a combination of lax ligaments and skeletal problems such as knock-knees.
Read more
Human walking involves the coordinated movements of all four limbs. As we walk, the arms swing oppositely to the legs. This movement pattern is very different in children with MPS IVa. This change seems to involve the whole musculoskeletal system and depends on the severity of the disease.
Recent studies in children with MPS IVa describing walking pattern have concentrated solely on the lower or upper limb respectively, and have not looked at the interaction of the upper and lower limbs during walking.
To our knowledge, the mechanics of walking in children with MPS IVa has not been investigated using a dynamic gait analysis tool (using cameras, sensors and electrodes to track the movements of different parts of the body during walking) and we aim to characterise this in a small number of children with MPS IVa and also examine the effects of splinting the wrist upon the walking pattern to see if this simple intervention makes it easier or more difficult for children with MPS IVa to walk.
- Conditions
- Mucopolysaccharidosis IV, Morquio A Disease
- Keywords
- Morquio, Mucopolysaccharidosis, Galactosamine-6-Sulfatase, GALNS
- Medical subject headings
- Mucopolysaccharidosis IV, Mucopolysaccharidoses
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 |
|---|---|---|
| Children With Mucopolysaccharidosis Type IVa | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evidence of abnormal walking pattern and surface EMG activity as assessed by Dynamic Gait Analysis
Assessment of head, trunk and joint positions during walking using a 12 camera Vicon motion analysis system. Surface EMG analysis using a 16 channel wireless surface electromyographic (sEMG) system. Assessment of lower limb joint moments and powers using Kistler 9281 and AMTI OPT 400600 force plates.
Measured: Within 6 months of recruitment
Secondary outcomes (3)
Change in gait pattern over one year
Comparison of two gait analysis studies taken 12 months apart
Measured: 12 months after first analysis
Effect on gait pattern of using wrist splints
Assessment of repeat gait analysis measurements done at first visit whilst wearing wrist splints
Measured: Within 6 months of recruitment
Effect on gait pattern of lower limb surgery
Further gait analysis studies will be done if a child undergoes any lower limb orthopaedic surgery during the study period and compared with pre-surgery analyses
Measured: Within 3 and 6 months of any lower limb surgery
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Jun 2014 (estimated)
- Study startJul 2016
- Primary completionJul 2016
- Study completionJul 2016
Why it stopped: Closure of Gait Analysis Laboratory - unable to set up alternative gait laboratory in time for funders
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucopolysaccharidosis IVStudies 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
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Birmingham Women's and Children's NHS Foundation Trust
- Sponsor type
- University, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Responsible party
- Principal investigator, Saikat Santra, Birmingham Women's and Children's NHS Foundation Trust
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02153255
- Sponsor's protocol ID
- 14/WM/0120
- Status last verified
- Jul 2016
- First submitted
- 28 May 2014
- Last updated
- 28 Jul 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Jul 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa
- ClinicalTrials.gov ID
- NCT02153255
- Acronym / sponsor ID
- 14/WM/0120
- Conditions
- Mucopolysaccharidosis IV, Morquio A Disease
- Keywords
- Morquio, Mucopolysaccharidosis, Galactosamine-6-Sulfatase, GALNS
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Closure of Gait Analysis Laboratory - unable to set up alternative gait laboratory in time for funders
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Birmingham Women's and Children's NHS Foundation TrustUniversity, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Study start
- Jul 2016
- Primary completion
- Jul 2016 (actual)
- Study completion
- Jul 2016 (actual)
- First posted
- 3 Jun 2014 (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.
Mucopolysaccharidosis Type IVa (MPS IVa, Morquio Disease) is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme galactose-6-sulfatase.
Children with this disease accumulate a chemical called keratan sulphate, which stops their skeletons developing properly. They are very short in stature and many of their joints are unstable. Children with MPS IVa walk in a different way to other people due to a combination of lax ligaments and skeletal problems such as knock-knees.
Human walking involves the coordinated movements of all four limbs. As we walk, the arms swing oppositely to the legs. This movement pattern is very different in children with MPS IVa. This change seems to involve the whole musculoskeletal system and depends on the severity of the disease.
Recent studies in children with MPS IVa describing walking pattern have concentrated solely on the lower or upper limb respectively, and have not looked at the interaction of the upper and lower limbs during walking.
To our knowledge, the mechanics of walking in children with MPS IVa has not been investigated using a dynamic gait analysis tool (using cameras, sensors and electrodes to track the movements of different parts of the body during walking) and we aim to characterise this in a small number of children with MPS IVa and also examine the effects of splinting the wrist upon the walking pattern to see if this simple intervention makes it easier or more difficult for children with MPS IVa to walk.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Children With Mucopolysaccharidosis Type IVa | – | – |
Who may qualify
- Ages
- 6 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Children With Mucopolysaccharidosis Type IVa
Key inclusion criteria (4 listed)
- Confirmed diagnosis of MPS IVa (documented history of reduced leucocyte GALNS enzyme activity relative to the normal range of the laboratory performing the assay AND/OR molecular analysis showing two pathogenic mutations in the GALNS gene)
- Willing and able to provide written assent and parent/legal guardian able to provide written informed consent after the nature of the study has been explained and prior to any research-related procedures
- Between 6 and 18 years of age inclusive
- Willing to perform all study procedures as far as physically possible
Key exclusion criteria (5 listed)
- Inability to comply with Gait Analysis protocol (e.g. nonambulant)
- Recent orthopaedic surgery that investigator deems might impact on Gait Analysis
- Use of any investigational product or investigational medical device other than BMN110 within 30 days prior to recruitment, or requirement for any investigational agent other than BMN110 prior to completion of all scheduled study assessments
- Concurrent disease or condition that would interfere with study participation or safety
- Any condition that, in the view of the Principal or Subinvestigators, places the subject at high risk of not completing the study procedures
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
Evidence of abnormal walking pattern and surface EMG activity as assessed by Dynamic Gait Analysis
Time frame: Within 6 months of recruitment
Assessment of head, trunk and joint positions during walking using a 12 camera Vicon motion analysis system. Surface EMG analysis using a 16 channel wireless surface electromyographic (sEMG) system. Assessment of lower limb joint moments and powers using Kistler 9281 and AMTI OPT 400600 force plates.
3 secondary outcomes
Change in gait pattern over one year
Time frame: 12 months after first analysis
Effect on gait pattern of using wrist splints
Time frame: Within 6 months of recruitment
Effect on gait pattern of lower limb surgery
Time frame: Within 3 and 6 months of any lower limb surgery
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jul 2016.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 IV and Morquio A Disease, run by Birmingham Women's and Children's NHS Foundation Trust at 1 site in United Kingdom.
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 4 inclusion and 5 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: withdrawn, as of the sponsor's last update on 28 Jul 2016. 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 Kingdom. 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 withdrawn before enrolling participants, so there are no results.
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?
Evidence of abnormal walking pattern and surface EMG activity as assessed by Dynamic Gait Analysis (time frame: Within 6 months of recruitment). 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 28 Jul 2016.