Prospective Longitudinal Multicentric Study to Measure Limb Movement in Patients With FGFR3-related Skeletal Dysplasia (SKY-MOT3)
Prospective Longitudinal Multicentric Study to Measure Limb Movement in Patients With FGFR3-related Skeletal Dysplasia Using Syde®
The study aims to identify which Syde®-derived digital outcomes are reliable in FGFR3-related Skeletal Dysplasia. This requires to set-up a natural history study to measure limb movements in patients with ACH or HCH.
調査の概要
研究の種類
入学 (推定)
連絡先と場所
研究連絡先
- 名前：Ferial Toumi
- 電話番号：+33 2 78 00 10 98
- メール：ferial.toumi@sysnav.fr
研究場所
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London、イギリス
- まだ募集していません
- Myriad Trials
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主任研究者：
- Melita IRVING
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Paris、フランス、75015
- 募集
- Hopital Necker
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コンタクト：
- Na An
- 電話番号：+33 1 71 19 64 73
- メール：na.an@aphp.fr
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主任研究者：
- Genevieve Baujat
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副調査官：
- Soo Kyung Kim
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Liège、ベルギー、4000
- まだ募集していません
- Hôpital de la Citadelle
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主任研究者：
- Julie HARVENGT
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Liège、ベルギー、4000
- まだ募集していません
- CHU de Liège
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主任研究者：
- Julie HARVENGT
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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
France: Participants will be recruited from the patient registry of the Centre de Référence des Maladies Osseuses Constitutionnelles located at Necker Hospital / IMAGINE Institute. The APPT association (Association des Personnes de Petite Taille) will also help with the recruitment through flyers distribution. All visits will take place at Necker Hospital.
Belgium: Participants will be recruited from the Maladies Rares Génétiques Ostéo-articulaires (MaRGOs) patient registry located at Centre Hospitalier Universitaire (CHU) de Liège, with additional recruitment through Centre Hospitalier Régional (CHR) de Liège and support from the Solidarité Wallonne des Personnes de Petite Taille association through flyer distribution. All visits will take place at CHU de Liège and CHR de Liège.
United Kingdom: Participants will be recruited from the Site Research Waiting List
説明
Inclusion Criteria:
1.a. Aged 2 years old or older at the time of consent (France and Belgium)
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b. Aged between 2 years old and < 17 years old at the time of consent (United Kingdom)
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Written informed consent obtained:
- From the parent(s) or legal guardian(s) for participants under 18 years old.
- From participants 18 years old and older.
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Affiliated to, or beneficiary of a social security category (not applicable for the United Kingdom)
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Able to walk unassisted for at least 10 meters.
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Genetically confirmed diagnosis with one pathogenic variant (ACMG class IV & V) of achondroplasia or hypochondroplasia.
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Participant (and caregivers for participants under 18 years old) willing and able to comply with all study procedures including: questionnaires, Syde® related procedures
Exclusion Criteria:
- Subjects who have short stature condition other than ACH/HCH.
- Presence of cognitive disorders that limit their understanding of the data collection process (training of device use and 4-week recording periods every 6 months, device return at the end of the study), the implication of the study and consent.
- Presence or history of any concurrent disease or condition that could interfere with study participation, impact pediatric growth, affect motor or balance or gait function (such as neurological, endocrine, infectious, allergic, osteoarthritis, or inflammatory), assessed by the investigator.
- Females who are pregnant, or planning to become pregnant during the study duration.
- Body Mass Index = 35 kg/m2.
- Recent upper and/or lower limbs injury (trauma/fracture or surgery) in the 6 months preceding inclusion.
- Prior limb lengthening surgery or planned or expected to have limb lengthening surgery while enrolled in the study.
- Presence of guided growth hardware (such as 8-plates) or planned orthopedic surgeries during the study.
- Vulnerable patient (guardianship, curatorship or safeguarding of justice), unable to provide informed consent or who is unable to express their consent.
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
- 観測モデル：COHORT
- 時間の展望：PROSPECTIVE
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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Reliability of digital endpoint derived from Syde® assessed by the Intra-Class Correlation (ICC) for each recording period timepoint.
時間枠：12 months
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reliability assessed by the ICC (Intra-Class Correlation)for each recording period timepoint (baseline, 6 months, 12 months) |
12 months
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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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number of participants reaching 180 hours of recording during the recording periods defined in the protocol
時間枠：12 months
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Number of patients reaching 180 hours of recordings during the recording periods defined in the protocol (supposed optimal threshold for Syde®-derived digital endpoint computation) at baseline, 6 months, 12 months |
12 months
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System Usability Score (F-SUS) score at 6 months of Syde® use
時間枠：6 months
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System Usability Score (SUS) at 6 months. The System Usability Scale is a 10-item questionnaire . It is a simple tool to measure the usability of an interactive system and it is widely used. For each item, the user is asked to express their level of agreement or disagreement from 1 (strongly disagree) and 5 (strongly agree). |
6 months
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Correlation between digital endpoints derived from Syde® and 6-minutes walk test (6MWT)
時間枠：12 months
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Correlation at baseline and at different timepoints between Syde® derived digital endpoint and 6MWT |
12 months
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Correlation between digital endpoints derived from Syde® and growth parameters
時間枠：12 months
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Correlation at baseline and at different timepoints between Syde® derived digital endpoints and annualized growth velocity, height Z-score, body proportion ratios |
12 months
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Correlation between digital endpoints derived from Syde® and Patient-reported Outcomes (PROs)
時間枠：12 months
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Correlation at baseline and at different timepoints between Syde® derived digital endpoints and PROs |
12 months
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Longitudinal Change in digital endpoints derived from Syde®
時間枠：12 months
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Change from baseline in digital endpoints derived from Syde® at 6 and 12 months |
12 months
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Syde® movement reconstruction accuracy compared to Optical Motion Capture measures.
時間枠：Baseline
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Stride detection accuracy of Syde®, stride length and stride velocity accuracy of Syde® and upper limb measures, compared to Optical Motion Capture measures |
Baseline
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Qualitative interview exploring limitations on mobility and impact on daily life
時間枠：baseline
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caregiver and/or participant qualitative interview exploring limitations on mobility daily life |
baseline
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協力者と研究者
スポンサー
捜査官
- 主任研究者：Genevieve Baujat、Hopital Necker
研究記録日
主要日程の研究
研究開始 (実際)
一次修了 (推定)
研究の完了 (推定)
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 (実際)
学習記録の更新
投稿された最後の更新 (実際)
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
本研究に関する用語
追加の関連 MeSH 用語
その他の研究ID番号
- PR5030-108
- 2025-A01608-41 (その他の識別子：ANSM)
医薬品およびデバイス情報、研究文書
米国FDA規制医薬品の研究
米国FDA規制機器製品の研究
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