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Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa

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ClinicalTrials.gov Identifier: NCT02153255
Recruitment Status : Withdrawn (Closure of Gait Analysis Laboratory - unable to set up alternative gait laboratory in time for funders)
First Posted : June 3, 2014
Last Update Posted : July 28, 2016
Sponsor:
Collaborator:
BioMarin Pharmaceutical
Information provided by (Responsible Party):
Saikat Santra, Birmingham Women's and Children's NHS Foundation Trust

Brief 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. 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.


Condition or disease
Mucopolysaccharidosis IV Morquio A Disease

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Study Type : Observational
Actual Enrollment : 0 participants
Observational Model: Cohort
Time Perspective: Prospective
Study Start Date : July 2016
Actual Primary Completion Date : July 2016
Actual Study Completion Date : July 2016


Group/Cohort
Children With Mucopolysaccharidosis Type IVa



Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. Change in gait pattern over one year [ Time Frame: 12 months after first analysis ]
    Comparison of two gait analysis studies taken 12 months apart

  2. Effect on gait pattern of using wrist splints [ Time Frame: Within 6 months of recruitment ]
    Assessment of repeat gait analysis measurements done at first visit whilst wearing wrist splints

  3. Effect on gait pattern of lower limb surgery [ Time Frame: Within 3 and 6 months of any 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



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Ages Eligible for Study:   6 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Children With Mucopolysaccharidosis Type IVa
Criteria

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02153255


Locations
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United Kingdom
Birmingham Children's Hospital NHS Foundation Trust
Birmingham, West Midlands, United Kingdom, B4 6NH
Sponsors and Collaborators
Birmingham Women's and Children's NHS Foundation Trust
BioMarin Pharmaceutical

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Responsible Party: Saikat Santra, Consultant in Clinical Inherited Metabolic Disorders, Birmingham Women's and Children's NHS Foundation Trust
ClinicalTrials.gov Identifier: NCT02153255     History of Changes
Other Study ID Numbers: 14/WM/0120
First Posted: June 3, 2014    Key Record Dates
Last Update Posted: July 28, 2016
Last Verified: July 2016
Keywords provided by Saikat Santra, Birmingham Women's and Children's NHS Foundation Trust:
Morquio
Mucopolysaccharidosis
Galactosamine-6-Sulfatase
GALNS
Additional relevant MeSH terms:
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Osteochondrodysplasias
Mucopolysaccharidoses
Mucopolysaccharidosis IV
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases