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Recruiting NCT07388966

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

— Observational Achondroplasia Hypochondroplasia

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Achondroplasia, Hypochondroplasia. Basic parameters: 3 years — 65 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

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

Overview

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.

Primary outcome measures

  • Reliability of digital endpoint derived from Syde® assessed by the Intra-Class Correlation (ICC) for each recording period timepoint. [Time frame: 12 months]
Secondary outcome measures (8)
  • number of participants reaching 180 hours of recording during the recording periods defined in the protocol [Time frame: 12 months]
  • French System Usability Score (F-SUS) score at 6 months of Syde® use [Time frame: 6 months]
  • Correlation between digital endpoints derived from Syde® and 6-minutes walk test (6MWT) [Time frame: 12 months]
  • Correlation between digital endpoints derived from Syde® and growth parameters [Time frame: 12 months]
  • Correlation between digital endpoints derived from Syde® and Patient-reported Outcomes (PROs) [Time frame: 12 months]
  • Longitudinal Change in digital endpoints derived from Syde® [Time frame: 12 months]
  • Syde® movement reconstruction accuracy compared to Optical Motion Capture measures. [Time frame: Baseline]
  • Qualitative interview exploring limitations on mobility and impact on daily life [Time frame: baseline]

Eligibility criteria

Inclusion criteria

  • 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

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

France · 1 center
  • Hopital Necker — Paris

Identifiers

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

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗