The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis

Hasan Kalyoncu University

Status: Completed

Conditions: Mucopolysaccharidosis

Treatments: Drug: Enzyme Replacement Agent

Study type: Interventional

Funder types: Other

Identifiers

NCT05006222

2020/117

Details and patient eligibility

About

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.

Enrollment: 12 patients

Sex: All

Ages: 3 to 11 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Supportive Care

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: Double Blind

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12 participants in 2 patient groups

ERT group

Active Comparator group

Description:

The participants are enrolled in this group whose get enzyme replacement therapy

Treatment:

Drug: Enzyme Replacement Agent

non-ERT group

No Intervention group

Description:

The participants are enrolled in this group whose not get enzyme replacement therapy