The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis
7 de agosto de 2021 actualizado 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.
Descripción general del estudio
Estado
Terminado
Condiciones
Intervención / Tratamiento
Tipo de estudio
Intervencionista
Inscripción (Actual)
12
Fase
- No aplica
Contactos y Ubicaciones
Esta sección proporciona los datos de contacto de quienes realizan el estudio e información sobre dónde se lleva a cabo este estudio.
Ubicaciones de estudio
-
-
None Selected
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Gaziantep, None Selected, Pavo, 27144
- Serkan Usgu
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-
Criterios de participación
Los investigadores buscan personas que se ajusten a una determinada descripción, denominada criterio de elegibilidad. Algunos ejemplos de estos criterios son el estado de salud general de una persona o tratamientos previos.
Criterio de elegibilidad
Edades elegibles para estudiar
3 años a 11 años (Niño)
Acepta Voluntarios Saludables
No
Géneros elegibles para el estudio
Todos
Descripción
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
Plan de estudios
Esta sección proporciona detalles del plan de estudio, incluido cómo está diseñado el estudio y qué mide el estudio.
¿Cómo está diseñado el estudio?
Detalles de diseño
- Propósito principal: Cuidados de apoyo
- Asignación: No aleatorizado
- Modelo Intervencionista: Asignación paralela
- Enmascaramiento: Doble
Armas e Intervenciones
Grupo de participantes/brazo |
Intervención / Tratamiento |
|---|---|
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Comparador activo: 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
|
|
Sin intervención: non-ERT group
The participants are enrolled in this group whose not get enzyme replacement therapy
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¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Pediatric Quality of Life Inventory
Periodo de tiempo: 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
Periodo de tiempo: 1 year
|
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
Periodo de tiempo: 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 resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Balance
Periodo de tiempo: 1 year
|
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
Periodo de tiempo: 1 year
|
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
Periodo de tiempo: 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
Aquí es donde encontrará personas y organizaciones involucradas en este estudio.
Patrocinador
Publicaciones y enlaces útiles
La persona responsable de ingresar información sobre el estudio proporciona voluntariamente estas publicaciones. Estos pueden ser sobre cualquier cosa relacionada con el estudio.
Publicaciones Generales
- 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.
Fechas de registro del estudio
Estas fechas rastrean el progreso del registro del estudio y los envíos de resultados resumidos a ClinicalTrials.gov. Los registros del estudio y los resultados informados son revisados por la Biblioteca Nacional de Medicina (NLM) para asegurarse de que cumplan con los estándares de control de calidad específicos antes de publicarlos en el sitio web público.
Fechas importantes del estudio
Inicio del estudio (Actual)
1 de febrero de 2020
Finalización primaria (Actual)
20 de marzo de 2021
Finalización del estudio (Actual)
27 de marzo de 2021
Fechas de registro del estudio
Enviado por primera vez
4 de agosto de 2021
Primero enviado que cumplió con los criterios de control de calidad
7 de agosto de 2021
Publicado por primera vez (Actual)
16 de agosto de 2021
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
16 de agosto de 2021
Última actualización enviada que cumplió con los criterios de control de calidad
7 de agosto de 2021
Última verificación
1 de agosto de 2021
Más información
Términos relacionados con este estudio
Términos MeSH relevantes adicionales
Otros números de identificación del estudio
- 2020/117
Plan de datos de participantes individuales (IPD)
¿Planea compartir datos de participantes individuales (IPD)?
NO
Descripción del plan IPD
there is no plan for sharing
Información sobre medicamentos y dispositivos, documentos del estudio
Estudia un producto farmacéutico regulado por la FDA de EE. UU.
No
Estudia un producto de dispositivo regulado por la FDA de EE. UU.
No
Esta información se obtuvo directamente del sitio web clinicaltrials.gov sin cambios. Si tiene alguna solicitud para cambiar, eliminar o actualizar los detalles de su estudio, comuníquese con register@clinicaltrials.gov. Tan pronto como se implemente un cambio en clinicaltrials.gov, también se actualizará automáticamente en nuestro sitio web. .