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The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis

NCT05006222 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 12

Last updated 2021-08-16

No results posted yet for this study

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.

Conditions

  • Mucopolysaccharidosis

Interventions

DRUG

Enzyme Replacement Agent

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

Sponsors & Collaborators

  • Hasan Kalyoncu University

    lead OTHER

Principal Investigators

  • Yavuz Yakut, Prof · Hasan Kalyoncu University

Study Design

Allocation
NON_RANDOMIZED
Purpose
SUPPORTIVE_CARE
Masking
DOUBLE
Model
PARALLEL

Eligibility

Min Age
3 Years
Max Age
11 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-02-01
Primary Completion
2021-03-20
Completion
2021-03-27

Countries

  • Turkey (Türkiye)

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05006222 on ClinicalTrials.gov