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.
Descripción general del estudio
Estado
Condiciones
Tipo de estudio
Inscripción (Estimado)
Contactos y Ubicaciones
Estudio Contacto
- Nombre: Ferial Toumi
- Número de teléfono: +33 2 78 00 10 98
- Correo electrónico: ferial.toumi@sysnav.fr
Ubicaciones de estudio
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Liège, Bélgica, 4000
- Aún no reclutando
- Hôpital de la Citadelle
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Investigador principal:
- Julie HARVENGT
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Liège, Bélgica, 4000
- Aún no reclutando
- CHU de Liège
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Investigador principal:
- Julie HARVENGT
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Paris, Francia, 75015
- Reclutamiento
- Hopital Necker
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Contacto:
- Na An
- Número de teléfono: +33 1 71 19 64 73
- Correo electrónico: na.an@aphp.fr
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Investigador principal:
- Genevieve Baujat
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Sub-Investigador:
- Soo Kyung Kim
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London, Reino Unido
- Aún no reclutando
- Myriad Trials
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Investigador principal:
- Melita IRVING
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
Acepta Voluntarios Saludables
Géneros elegibles para el estudio
Método de muestreo
Población de estudio
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
Descripción
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.
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
- Modelos observacionales: COHORT
- Perspectivas temporales: PROSPECTIVE
¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
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Reliability of digital endpoint derived from Syde® assessed by the Intra-Class Correlation (ICC) for each recording period timepoint.
Periodo de tiempo: 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 resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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number of participants reaching 180 hours of recording during the recording periods defined in the protocol
Periodo de tiempo: 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
Periodo de tiempo: 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)
Periodo de tiempo: 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
Periodo de tiempo: 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)
Periodo de tiempo: 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®
Periodo de tiempo: 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.
Periodo de tiempo: 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
Periodo de tiempo: 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
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio (Actual)
Finalización primaria (Estimado)
Finalización del estudio (Estimado)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Actual)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Términos MeSH relevantes adicionales
Otros números de identificación del estudio
- PR5030-108
- 2025-A01608-41 (Otro identificador: ANSM)
Información sobre medicamentos y dispositivos, documentos del estudio
Estudia un producto farmacéutico regulado por la FDA de EE. UU.
Estudia un producto de dispositivo regulado por la FDA de EE. UU.
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