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| ID | Type | Description | Link |
|---|---|---|---|
| 2025-A01608-41 | Other Identifier | ANSM |
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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.
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| Measure | Description | Time Frame |
|---|---|---|
| Reliability of digital endpoint derived from Syde® assessed by the Intra-Class Correlation (ICC) for each recording period timepoint. | reliability assessed by the ICC (Intra-Class Correlation)for each recording period timepoint (baseline, 6 months, 12 months) | 12 months |
| Measure | Description | Time Frame |
|---|---|---|
| number of participants reaching 180 hours of recording during the recording periods defined in the protocol | 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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Inclusion Criteria:
Aged 3 years old or older at the time of consent.
Written informed consent obtained:
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:
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Participants will be recruited from the patient registry of the Centre de Référence des Maladies Osseuses Constitutionnelles located at NeckerHospital / 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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Ferial Toumi | Contact | +33 2 78 00 10 98 | ferial.toumi@sysnav.fr |
| Name | Affiliation | Role |
|---|---|---|
| Genevieve Baujat | Hopital Necker | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hopital Necker | Recruiting | Paris | 75015 | France |
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| ID | Term |
|---|---|
| D000130 | Achondroplasia |
| C562937 | Hypochondroplasia |
| ID | Term |
|---|---|
| D004392 | Dwarfism |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
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| French System Usability Score (F-SUS) score at 6 months of Syde® use |
French System Usability Score (F-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 |
| Correlation between digital endpoints derived from Syde® and 6-minutes walk test (6MWT) | Correlation at baseline and at different timepoints between Syde® derived digital endpoint and 6MWT | 12 months |
| Correlation between digital endpoints derived from Syde® and growth parameters | Correlation at baseline and at different timepoints between Syde® derived digital endpoints and annualized growth velocity, height Z-score, body proportion ratios | 12 months |
| Correlation between digital endpoints derived from Syde® and Patient-reported Outcomes (PROs) | Correlation at baseline and at different timepoints between Syde® derived digital endpoints and PROs | 12 months |
| Longitudinal Change in digital endpoints derived from Syde® | Change from baseline in digital endpoints derived from Syde® at 6 and 12 months | 12 months |
| Syde® movement reconstruction accuracy compared to Optical Motion Capture measures. | Stride detection accuracy of Syde®, stride length and stride velocity accuracy of Syde® and upper limb measures, compared to Optical Motion Capture measures | Baseline |
| Qualitative interview exploring limitations on mobility and impact on daily life | caregiver and/or participant qualitative interview exploring limitations on mobility daily life | baseline |
| D010009 |
| Osteochondrodysplasias |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |