Clinical trial NCT05006222: The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis
Official title: Effects of Enzyme Replacement Therapy on Quality of Life, Functional Independence and Aerobic Capacity in Children With Mucopolysaccharidosis
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Mucopolysaccharidosis
Keywords: Mucopolysaccharidosis
Aerobic capacity
Quality of Life
Functional independence
Lead sponsor: Hasan Kalyoncu University
Sponsor class: OTHER
First posted: 2021-08-16
Enrollment: 12
Sex: ALL
Minimum age (years): 3
Maximum age (years): 11
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: SUPPORTIVE_CARE

Brief 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.


Eligibility criteria: Inclusion Criteria:

* Age must be range between 3 and 11 years
* Having diagnosis of MPS.

Exclusion Criteria:

* Patients refusing to participate in the study
* Patients without a definite diagnosis
* Patients and parents who are not cooperate with the study tests

Primary outcomes:
measure: Pediatric Quality of Life Inventory
timeFrame: 1 year
measure: Functional Independence Measure
timeFrame: 1 year
measure: Aerobic Capacity
timeFrame: 1 year
Secondary outcomes:
measure: Balance
timeFrame: 1 year
measure: Depression Level
timeFrame: 1 year
measure: Anxiety Level
timeFrame: 1 year
Other outcomes:
Locations:
city: Gaziantep
country: Turkey
facility: Serkan Usgu
state: None Selected
Study officials:
affiliation: Hasan Kalyoncu University
name: Yavuz Yakut, Prof
role: STUDY_CHAIR
References:
citation: Zhou J, Lin J, Leung WT, Wang L. A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management. Intractable Rare Dis Res. 2020 Feb;9(1):1-9. doi: 10.5582/irdr.2020.01011.
citation: Guarany NR, Schwartz IV, Guarany FC, Giugliani R. Functional capacity evaluation of patients with mucopolysaccharidosis. J Pediatr Rehabil Med. 2012;5(1):37-46. doi: 10.3233/PRM-2012-0194.
citation: Hendriksz CJ, Berger KI, Lampe C, Kircher SG, Orchard PJ, Southall R, Long S, Sande S, Gold JI. Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues. Orphanet J Rare Dis. 2016 Aug 26;11(1):119. doi: 10.1186/s13023-016-0503-2.
citation: Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30.
citation: Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab. 2014 Feb;111(2):63-72. doi: 10.1016/j.ymgme.2013.11.015. Epub 2013 Dec 11.