Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa
Mucopolysaccharidosis Type IVa (MPS IVa, Morquio Disease) is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme galactose-6-sulfatase.
Children with this disease accumulate a chemical called keratan sulphate, which stops their skeletons developing properly. They are very short in stature and many of their joints are unstable. Children with MPS IVa walk in a different way to other people due to a combination of lax ligaments and skeletal problems such as knock-knees.
Human walking involves the coordinated movements of all four limbs. As we walk, the arms swing oppositely to the legs. This movement pattern is very different in children with MPS IVa. This change seems to involve the whole musculoskeletal system and depends on the severity of the disease.
Recent studies in children with MPS IVa describing walking pattern have concentrated solely on the lower or upper limb respectively, and have not looked at the interaction of the upper and lower limbs during walking.
To our knowledge, the mechanics of walking in children with MPS IVa has not been investigated using a dynamic gait analysis tool (using cameras, sensors and electrodes to track the movements of different parts of the body during walking) and we aim to characterise this in a small number of children with MPS IVa and also examine the effects of splinting the wrist upon the walking pattern to see if this simple intervention makes it easier or more difficult for children with MPS IVa to walk.
調査の概要
状態
研究の種類
連絡先と場所
研究場所
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West Midlands
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Birmingham、West Midlands、イギリス、B4 6NH
- Birmingham Children's Hospital NHS Foundation Trust
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参加基準
適格基準
就学可能な年齢
健康ボランティアの受け入れ
受講資格のある性別
サンプリング方法
調査対象母集団
説明
Inclusion Criteria:
- Confirmed diagnosis of MPS IVa (documented history of reduced leucocyte GALNS enzyme activity relative to the normal range of the laboratory performing the assay AND/OR molecular analysis showing two pathogenic mutations in the GALNS gene)
- Willing and able to provide written assent and parent/legal guardian able to provide written informed consent after the nature of the study has been explained and prior to any research-related procedures
- Between 6 and 18 years of age inclusive
- Willing to perform all study procedures as far as physically possible
Exclusion Criteria:
- Inability to comply with Gait Analysis protocol (e.g. nonambulant)
- Recent orthopaedic surgery that investigator deems might impact on Gait Analysis
- Use of any investigational product or investigational medical device other than BMN110 within 30 days prior to recruitment, or requirement for any investigational agent other than BMN110 prior to completion of all scheduled study assessments
- Concurrent disease or condition that would interfere with study participation or safety
- Any condition that, in the view of the Principal or Subinvestigators, places the subject at high risk of not completing the study procedures
研究計画
研究はどのように設計されていますか？
デザインの詳細
コホートと介入
グループ/コホート |
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Children With Mucopolysaccharidosis Type IVa
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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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Evidence of abnormal walking pattern and surface EMG activity as assessed by Dynamic Gait Analysis
時間枠：Within 6 months of recruitment
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Assessment of head, trunk and joint positions during walking using a 12 camera Vicon motion analysis system.
Surface EMG analysis using a 16 channel wireless surface electromyographic (sEMG) system.
Assessment of lower limb joint moments and powers using Kistler 9281 and AMTI OPT 400600 force plates.
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Within 6 months of recruitment
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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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Change in gait pattern over one year
時間枠：12 months after first analysis
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Comparison of two gait analysis studies taken 12 months apart
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12 months after first analysis
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Effect on gait pattern of using wrist splints
時間枠：Within 6 months of recruitment
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Assessment of repeat gait analysis measurements done at first visit whilst wearing wrist splints
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Within 6 months of recruitment
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Effect on gait pattern of lower limb surgery
時間枠：Within 3 and 6 months of any lower limb surgery
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Further gait analysis studies will be done if a child undergoes any lower limb orthopaedic surgery during the study period and compared with pre-surgery analyses
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Within 3 and 6 months of any lower limb surgery
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協力者と研究者
研究記録日
主要日程の研究
研究開始
一次修了 (実際)
研究の完了 (実際)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (見積もり)
学習記録の更新
投稿された最後の更新 (見積もり)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
この情報は、Web サイト clinicaltrials.gov から変更なしで直接取得したものです。研究の詳細を変更、削除、または更新するリクエストがある場合は、register@clinicaltrials.gov。 までご連絡ください。 clinicaltrials.gov に変更が加えられるとすぐに、ウェブサイトでも自動的に更新されます。
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