The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis
7 août 2021 mis à jour par: 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.
Aperçu de l'étude
Statut
Complété
Les conditions
Intervention / Traitement
Type d'étude
Interventionnel
Inscription (Réel)
12
Phase
- N'est pas applicable
Contacts et emplacements
Cette section fournit les coordonnées de ceux qui mènent l'étude et des informations sur le lieu où cette étude est menée.
Lieux d'étude
-
-
None Selected
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Gaziantep, None Selected, Turquie, 27144
- Serkan Usgu
-
-
Critères de participation
Les chercheurs recherchent des personnes qui correspondent à une certaine description, appelée critères d'éligibilité. Certains exemples de ces critères sont l'état de santé général d'une personne ou des traitements antérieurs.
Critère d'éligibilité
Âges éligibles pour étudier
3 ans à 11 ans (Enfant)
Accepte les volontaires sains
Non
Sexes éligibles pour l'étude
Tout
La description
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 d'étude
Cette section fournit des détails sur le plan d'étude, y compris la façon dont l'étude est conçue et ce que l'étude mesure.
Comment l'étude est-elle conçue ?
Détails de conception
- Objectif principal: Soins de soutien
- Répartition: Non randomisé
- Modèle interventionnel: Affectation parallèle
- Masquage: Double
Armes et Interventions
Groupe de participants / Bras |
Intervention / Traitement |
|---|---|
|
Comparateur actif: ERT group
The participants are enrolled in this group whose get enzyme replacement therapy
|
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
|
|
Aucune intervention: non-ERT group
The participants are enrolled in this group whose not get enzyme replacement therapy
|
Que mesure l'étude ?
Principaux critères de jugement
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
|
Pediatric Quality of Life Inventory
Délai: 1 year
|
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
Délai: 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
Délai: 1 year
|
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
|
Mesures de résultats secondaires
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
|
Balance
Délai: 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
Délai: 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
Délai: 1 year
|
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
|
Collaborateurs et enquêteurs
C'est ici que vous trouverez les personnes et les organisations impliquées dans cette étude.
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Publications et liens utiles
La personne responsable de la saisie des informations sur l'étude fournit volontairement ces publications. Il peut s'agir de tout ce qui concerne l'étude.
Publications générales
- 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.
Dates d'enregistrement des études
Ces dates suivent la progression des dossiers d'étude et des soumissions de résultats sommaires à ClinicalTrials.gov. Les dossiers d'étude et les résultats rapportés sont examinés par la Bibliothèque nationale de médecine (NLM) pour s'assurer qu'ils répondent à des normes de contrôle de qualité spécifiques avant d'être publiés sur le site Web public.
Dates principales de l'étude
Début de l'étude (Réel)
1 février 2020
Achèvement primaire (Réel)
20 mars 2021
Achèvement de l'étude (Réel)
27 mars 2021
Dates d'inscription aux études
Première soumission
4 août 2021
Première soumission répondant aux critères de contrôle qualité
7 août 2021
Première publication (Réel)
16 août 2021
Mises à jour des dossiers d'étude
Dernière mise à jour publiée (Réel)
16 août 2021
Dernière mise à jour soumise répondant aux critères de contrôle qualité
7 août 2021
Dernière vérification
1 août 2021
Plus d'information
Termes liés à cette étude
Termes MeSH pertinents supplémentaires
Autres numéros d'identification d'étude
- 2020/117
Plan pour les données individuelles des participants (IPD)
Prévoyez-vous de partager les données individuelles des participants (DPI) ?
NON
Description du régime IPD
there is no plan for sharing
Informations sur les médicaments et les dispositifs, documents d'étude
Étudie un produit pharmaceutique réglementé par la FDA américaine
Non
Étudie un produit d'appareil réglementé par la FDA américaine
Non
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