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.
Visão geral do estudo
Status
Condições
Tipo de estudo
Inscrição (Estimado)
Contactos e Locais
Contato de estudo
- Nome: Ferial Toumi
- Número de telefone: +33 2 78 00 10 98
- E-mail: ferial.toumi@sysnav.fr
Locais de estudo
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Liège, Bélgica, 4000
- Ainda não está recrutando
- Hôpital de la Citadelle
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Investigador principal:
- Julie HARVENGT
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Liège, Bélgica, 4000
- Ainda não está recrutando
- CHU de Liège
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Investigador principal:
- Julie HARVENGT
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Paris, França, 75015
- Recrutamento
- Hopital Necker
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Contato:
- Na An
- Número de telefone: +33 1 71 19 64 73
- E-mail: na.an@aphp.fr
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Investigador principal:
- Genevieve Baujat
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Subinvestigador:
- Soo Kyung Kim
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London, Reino Unido
- Ainda não está recrutando
- Myriad Trials
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Investigador principal:
- Melita IRVING
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Critérios de participação
Critérios de elegibilidade
Idades elegíveis para estudo
Aceita Voluntários Saudáveis
Gêneros Elegíveis para o Estudo
Método de amostragem
População do estudo
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
Descrição
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.
Plano de estudo
Como o estudo é projetado?
Detalhes do projeto
- Modelos de observação: COHORT
- Perspectivas de Tempo: PROSPECTIVE
O que o estudo está medindo?
Medidas de resultados primários
Medida de resultado |
Descrição da medida |
Prazo |
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Reliability of digital endpoint derived from Syde® assessed by the Intra-Class Correlation (ICC) for each recording period timepoint.
Prazo: 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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Medidas de resultados secundários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
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number of participants reaching 180 hours of recording during the recording periods defined in the protocol
Prazo: 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
Prazo: 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)
Prazo: 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
Prazo: 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)
Prazo: 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®
Prazo: 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.
Prazo: 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
Prazo: baseline
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caregiver and/or participant qualitative interview exploring limitations on mobility daily life |
baseline
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Colaboradores e Investigadores
Patrocinador
Investigadores
- Investigador principal: Genevieve Baujat, Hopital Necker
Datas de registro do estudo
Datas Principais do Estudo
Início do estudo (Real)
Conclusão Primária (Estimado)
Conclusão do estudo (Estimado)
Datas de inscrição no estudo
Enviado pela primeira vez
Enviado pela primeira vez que atendeu aos critérios de CQ
Primeira postagem (Real)
Atualizações de registro de estudo
Última Atualização Postada (Real)
Última atualização enviada que atendeu aos critérios de controle de qualidade
Última verificação
Mais Informações
Termos relacionados a este estudo
Termos MeSH relevantes adicionais
Outros números de identificação do estudo
- PR5030-108
- 2025-A01608-41 (Outro identificador: ANSM)
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