The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis
2021年8月7日 更新者：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.
調査の概要
研究の種類
介入
入学 (実際)
12
段階
- 適用できない
連絡先と場所
このセクションには、調査を実施する担当者の連絡先の詳細と、この調査が実施されている場所に関する情報が記載されています。
研究場所
-
-
None Selected
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Gaziantep、None Selected、七面鳥、27144
- Serkan Usgu
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参加基準
研究者は、適格基準と呼ばれる特定の説明に適合する人を探します。これらの基準のいくつかの例は、人の一般的な健康状態または以前の治療です。
適格基準
就学可能な年齢
3年～11年 (子)
健康ボランティアの受け入れ
いいえ
受講資格のある性別
全て
説明
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
研究計画
このセクションでは、研究がどのように設計され、研究が何を測定しているかなど、研究計画の詳細を提供します。
研究はどのように設計されていますか？
デザインの詳細
- 主な目的：支持療法
- 割り当て：非ランダム化
- 介入モデル：並列代入
- マスキング：ダブル
武器と介入
参加者グループ / アーム |
介入・治療 |
|---|---|
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アクティブコンパレータ：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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介入なし：non-ERT group
The participants are enrolled in this group whose not get enzyme replacement therapy
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この研究は何を測定していますか？
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
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Pediatric Quality of Life Inventory
時間枠：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
時間枠：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
時間枠：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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二次結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
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Balance
時間枠：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
時間枠：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
時間枠：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
|
協力者と研究者
ここでは、この調査に関係する人々や組織を見つけることができます。
出版物と役立つリンク
研究に関する情報を入力する責任者は、自発的にこれらの出版物を提供します。これらは、研究に関連するあらゆるものに関するものである可能性があります。
一般刊行物
- 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.
研究記録日
これらの日付は、ClinicalTrials.gov への研究記録と要約結果の提出の進捗状況を追跡します。研究記録と報告された結果は、国立医学図書館 (NLM) によって審査され、公開 Web サイトに掲載される前に、特定の品質管理基準を満たしていることが確認されます。
主要日程の研究
研究開始 (実際)
2020年2月1日
一次修了 (実際)
2021年3月20日
研究の完了 (実際)
2021年3月27日
試験登録日
最初に提出
2021年8月4日
QC基準を満たした最初の提出物
2021年8月7日
最初の投稿 (実際)
2021年8月16日
学習記録の更新
投稿された最後の更新 (実際)
2021年8月16日
QC基準を満たした最後の更新が送信されました
2021年8月7日
最終確認日
2021年8月1日
詳しくは
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