The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis
7 de agosto de 2021 atualizado por: Serkan Usgu, Hasan Kalyoncu University
Effects of Enzyme Replacement Therapy on Quality of Life, Functional Independence and Aerobic Capacity in Children With Mucopolysaccharidosis
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.
Visão geral do estudo
Status
Concluído
Condições
Intervenção / Tratamento
Tipo de estudo
Intervencional
Inscrição (Real)
12
Estágio
- Não aplicável
Contactos e Locais
Esta seção fornece os detalhes de contato para aqueles que conduzem o estudo e informações sobre onde este estudo está sendo realizado.
Locais de estudo
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None Selected
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Gaziantep, None Selected, Peru, 27144
- Serkan Usgu
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Critérios de participação
Os pesquisadores procuram pessoas que se encaixem em uma determinada descrição, chamada de critérios de elegibilidade. Alguns exemplos desses critérios são a condição geral de saúde de uma pessoa ou tratamentos anteriores.
Critérios de elegibilidade
Idades elegíveis para estudo
3 anos a 11 anos (Filho)
Aceita Voluntários Saudáveis
Não
Gêneros Elegíveis para o Estudo
Tudo
Descrição
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
Plano de estudo
Esta seção fornece detalhes do plano de estudo, incluindo como o estudo é projetado e o que o estudo está medindo.
Como o estudo é projetado?
Detalhes do projeto
- Finalidade Principal: Cuidados de suporte
- Alocação: Não randomizado
- Modelo Intervencional: Atribuição Paralela
- Mascaramento: Dobro
Armas e Intervenções
Grupo de Participantes / Braço |
Intervenção / Tratamento |
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Comparador Ativo: ERT group
The participants are enrolled in this group whose get enzyme replacement therapy
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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
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Sem intervenção: non-ERT group
The participants are enrolled in this group whose not get enzyme replacement therapy
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O que o estudo está medindo?
Medidas de resultados primários
Medida de resultado |
Descrição da medida |
Prazo |
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Pediatric Quality of Life Inventory
Prazo: 1 year
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The Pediatric Quality of Life Inventory (PedsQL) is a health status instrument for the assessment of health-related quality of life in children and adolescents from 2 to 18 years of age.
The PedsQL can be completed by children themselves or with their parents.
The tool consists of a total of 23 questions that assess physical functioning (8 questions), emotional functioning (5 questions), social functioning (5 questions), and school functioning (5 questions).
Possible maximum scores range between 0 and 100 and higher scores indicate better quality of life.
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1 year
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Functional Independence Measure
Prazo: 1 year
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Functional independence of the subjects was assessed using the Functional Independence Measure for Children (WeeFIM).
It is a short and validated tool to determine impairment of developmental, educational and social functioning in children with cerebral palsy and other developmental disorders.
The WeeFIM is an 18-item scale that measures the performance of the child in activities of daily living including bowel and bladder control, transfers, mobility, communication, eating, grooming, bathing, upper body dressing, lower body dressing, toileting and social cognition.
Each item is assigned a score between 1 and 7 points.
Higher total scores indicate greater level of independence.
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1 year
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Aerobic Capacity
Prazo: 1 year
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Aerobic capacity was assessed using the 6-minute walk test (6MWT) and timed up and go (TUG) test. For the 6MWT test, the subjects were asked to walk but not run for 6 minutes on a 30-meter corridor as fast as possible. Care was taken not to change the pace. At the end of the test, total distance covered was measured. The TUG test is a practical test that allows quick assessment of dynamic balance, gait speed and mobility. During the test, the subjects were asked to stand up from a chair without holding on to the arms of the chair, walk 3 meters, turn, return to the chair without touching anything and sit down again. Total time was recorded in seconds. |
1 year
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Medidas de resultados secundários
Medida de resultado |
Descrição da medida |
Prazo |
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Balance
Prazo: 1 year
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The modified functional reach test was developed by Lynch et al. to evaluate dynamic balance of the trunk.
It is a reliable and validated test to measure the distance an individual can reach forward without losing balance while sitting in a fixed position.
For the test, the subjects were instructed to sit with the arm kept parallel to the wall and shoulder flexed to 90 degrees and measurement was taken from the distal end the third metacarpal.
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1 year
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Depression Level
Prazo: 1 year
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The Beck Depression Inventory (BDI) was used to determine the depression level of caregivers.
The BDI was developed for measure the risk of depression, the level of depressive symptoms and changes in the severity of depression in adults.
Reliability and validity of a Turkish version of the BDI were demonstrated by Hisli (1989).
The BDI is a 21-item, self-rated scale and each item is scored between 1 and 3 points.
Higher total scores indicate greater depression severity.
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1 year
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Anxiety Level
Prazo: 1 year
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The Beck Anxiety Inventory (BAI) was used to evaluate the anxiety level of caregivers.
The BAI was developed for determine the frequency of anxiety symptoms experienced by individuals.
It is a 21-item, Likert scale with scores ranging from 0 and 3 points.
Higher overall scores denote greater level of anxiety.
Reliability and validity of a Turkish version of the BAI were demonstrated by Ulusoy et al. (1998).
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1 year
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Colaboradores e Investigadores
É aqui que você encontrará pessoas e organizações envolvidas com este estudo.
Patrocinador
Publicações e links úteis
A pessoa responsável por inserir informações sobre o estudo fornece voluntariamente essas publicações. Estes podem ser sobre qualquer coisa relacionada ao estudo.
Publicações Gerais
- 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.
- 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.
- 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.
- 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.
- 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.
Datas de registro do estudo
Essas datas acompanham o progresso do registro do estudo e os envios de resumo dos resultados para ClinicalTrials.gov. Os registros do estudo e os resultados relatados são revisados pela National Library of Medicine (NLM) para garantir que atendam aos padrões específicos de controle de qualidade antes de serem publicados no site público.
Datas Principais do Estudo
Início do estudo (Real)
1 de fevereiro de 2020
Conclusão Primária (Real)
20 de março de 2021
Conclusão do estudo (Real)
27 de março de 2021
Datas de inscrição no estudo
Enviado pela primeira vez
4 de agosto de 2021
Enviado pela primeira vez que atendeu aos critérios de CQ
7 de agosto de 2021
Primeira postagem (Real)
16 de agosto de 2021
Atualizações de registro de estudo
Última Atualização Postada (Real)
16 de agosto de 2021
Última atualização enviada que atendeu aos critérios de controle de qualidade
7 de agosto de 2021
Última verificação
1 de agosto de 2021
Mais Informações
Termos relacionados a este estudo
Termos MeSH relevantes adicionais
Outros números de identificação do estudo
- 2020/117
Plano para dados de participantes individuais (IPD)
Planeja compartilhar dados de participantes individuais (IPD)?
NÃO
Descrição do plano IPD
there is no plan for sharing
Informações sobre medicamentos e dispositivos, documentos de estudo
Estuda um medicamento regulamentado pela FDA dos EUA
Não
Estuda um produto de dispositivo regulamentado pela FDA dos EUA
Não
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Ensaios clínicos em Enzyme Replacement Agent
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Aydin Adnan Menderes UniversityConcluído