The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis
Status:
Completed
Trial end date:
2021-03-27
Target enrollment:
Participant gender:
Summary
Mucopolysaccharidosis (MPS) causes chronic, progressive systemic disorders due to enzyme
deficiency. Musculoskeletal manifestations of MPS include bone and vertebral deformities,
restricted joint function and ROM (range of motion), rib cage abnormalities, short stature
and hip dysplasia as well as flexion contracture in the knee and interphalangeal joints and
joint laxity. Currently, there is no treatment that cures the symptoms of MPS. However, there
are some forms of treatment that can delay the progression of the disease. Enzyme replacement
therapy is one such treatment and used for the management of some subtypes of MPS disease.
Enzyme replacement therapy (ERT) is based on the concept of replacing the missing enzyme in
the circulation to prevent the build-up of glycosaminoglycan (GAG) in the tissues. Very few
studies in the literature have examined the impact of MPS in the lives of children affected
by this disease. Studies investigating functional capacity, independence and quality of life
in children receiving or not receiving enzyme replacement therapy have not provided a clear
picture of the problems faced by these children. Secondly, psychological problems experienced
by caregivers of children with MPS have not been studied specifically in former studies.
Therefore, the aim of this study was to examine the impact of ERT on aerobic capacity,
functional independence and quality of life in children with MPS and to determine the anxiety
and depression levels of their caregivers.