Mucopolysaccharidosis IV Clinical Trial
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.
n/a
Observational Model: Cohort, Time Perspective: Prospective
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Terminated |
NCT01675674 -
Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
|
N/A | |
| Completed |
NCT01752296 -
Psychological Concomitants of Morquio Syndrome (The MAP Study)
|
N/A | |
| Recruiting |
NCT06036693 -
MPS (RaDiCo Cohort) (RaDiCo-MPS)
|