Prospective Longitudinal Monocentric Study to Measure Limb Movement in Patients With FGFR3-related Skeletal Dysplasia

Официальное название

Prospective Longitudinal Monocentric Study to Measure Limb Movement in Patients With FGFR3-related Skeletal Dysplasia Using Syde®

Обзор

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.

Первичные конечные точки

• Reliability of digital endpoint derived from Syde® assessed by the Intra-Class Correlation (ICC) for each recording period timepoint. [Срок оценки: 12 months]

Вторичные конечные точки (8)

• number of participants reaching 180 hours of recording during the recording periods defined in the protocol [Срок оценки: 12 months]
• French System Usability Score (F-SUS) score at 6 months of Syde® use [Срок оценки: 6 months]
• Correlation between digital endpoints derived from Syde® and 6-minutes walk test (6MWT) [Срок оценки: 12 months]
• Correlation between digital endpoints derived from Syde® and growth parameters [Срок оценки: 12 months]
• Correlation between digital endpoints derived from Syde® and Patient-reported Outcomes (PROs) [Срок оценки: 12 months]
• Longitudinal Change in digital endpoints derived from Syde® [Срок оценки: 12 months]
• Syde® movement reconstruction accuracy compared to Optical Motion Capture measures. [Срок оценки: Baseline]
• Qualitative interview exploring limitations on mobility and impact on daily life [Срок оценки: baseline]

Критерии участия

Критерии включения

• Aged 3 years old or older at the time of consent.
• 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.
• Affiliated to, or beneficiary of a social security category
• Able to walk unassisted for at least 10 meters.
• Genetically confirmed diagnosis with one pathogenic variant (ACMG class IV \& V) of achondroplasia or hypochondroplasia.
• Participant (and caregivers for participants under 18 years old) willing and able to comply with all study procedures including: questionnaires, Syde® related procedures

Критерии исключения

• 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.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Франция · 1 центр

• Hopital Necker — Paris

Идентификаторы

NCT: NCT07388966 · PR5030-108 · 2025-A01608-41

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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