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Prospective Longitudinal Multicentric Study to Measure Limb Movement in Patients With FGFR3-related Skeletal Dysplasia (SKY-MOT3)

18 septembre 2026 mis à jour par: SYSNAV

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.

Aperçu de l'étude

Statut

Recrutement

Les conditions

Type d'étude

Observationnel

Inscription (Estimé)

140

Contacts et emplacements

Cette section fournit les coordonnées de ceux qui mènent l'étude et des informations sur le lieu où cette étude est menée.

Coordonnées de l'étude

Nom: Ferial Toumi
Numéro de téléphone: +33 2 78 00 10 98
E-mail: ferial.toumi@sysnav.fr

Lieux d'étude

Belgique
- - Liège, Belgique, 4000
    - Pas encore de recrutement
    - Hôpital de la Citadelle
    - Chercheur principal:
      
      Julie HARVENGT
  - Liège, Belgique, 4000
    - Pas encore de recrutement
    - CHU de Liège
    - Chercheur principal:
      
      Julie HARVENGT
France
- - Paris, France, 75015
    - Recrutement
    - Hopital Necker
    - Contact:
      
      Na An
      
      Numéro de téléphone: +33 1 71 19 64 73
      
      E-mail: na.an@aphp.fr
    - Chercheur principal:
      
      Genevieve Baujat
    - Sous-enquêteur:
      
      Soo Kyung Kim
Royaume-Uni
- - London, Royaume-Uni
    - Pas encore de recrutement
    - Myriad Trials
    - Chercheur principal:
      
      Melita IRVING

Critères de participation

Les chercheurs recherchent des personnes qui correspondent à une certaine description, appelée critères d'éligibilité. Certains exemples de ces critères sont l'état de santé général d'une personne ou des traitements antérieurs.

Critère d'éligibilité

Âges éligibles pour étudier

2 ans à 65 ans (Enfant, Adulte, Adulte plus âgé)

Accepte les volontaires sains

Non

Sexes éligibles pour l'étude

Tout

Méthode d'échantillonnage

Échantillon non probabiliste

Population étudiée

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

La description

Inclusion Criteria:

1.a. Aged 2 years old or older at the time of consent (France and Belgium)

b. Aged between 2 years old and < 17 years old at the time of consent (United Kingdom)
Written informed consent obtained:
1. From the parent(s) or legal guardian(s) for participants under 18 years old.
2. From participants 18 years old and older.
Affiliated to, or beneficiary of a social security category (not applicable for the United Kingdom)
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.

Plan d'étude

Cette section fournit des détails sur le plan d'étude, y compris la façon dont l'étude est conçue et ce que l'étude mesure.

Comment l'étude est-elle conçue ?

Détails de conception

Modèles d'observation: COHORT
Perspectives temporelles: PROSPECTIVE

Que mesure l'étude ?

Principaux critères de jugement

Mesure des résultats	Description de la mesure	Délai
Reliability of digital endpoint derived from Syde® assessed by the Intra-Class Correlation (ICC) for each recording period timepoint. Délai: 12 months	reliability assessed by the ICC (Intra-Class Correlation)for each recording period timepoint (baseline, 6 months, 12 months)	12 months

Mesures de résultats secondaires

Mesure des résultats	Description de la mesure	Délai
number of participants reaching 180 hours of recording during the recording periods defined in the protocol Délai: 12 months	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
System Usability Score (F-SUS) score at 6 months of Syde® use Délai: 6 months	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
Correlation between digital endpoints derived from Syde® and 6-minutes walk test (6MWT) Délai: 12 months	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 Délai: 12 months	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) Délai: 12 months	Correlation at baseline and at different timepoints between Syde® derived digital endpoints and PROs	12 months
Longitudinal Change in digital endpoints derived from Syde® Délai: 12 months	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. Délai: Baseline	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 Délai: baseline	caregiver and/or participant qualitative interview exploring limitations on mobility daily life	baseline

Collaborateurs et enquêteurs

C'est ici que vous trouverez les personnes et les organisations impliquées dans cette étude.

Parrainer

SYSNAV

Les enquêteurs

Chercheur principal: Genevieve Baujat, Hopital Necker

Dates d'enregistrement des études

Ces dates suivent la progression des dossiers d'étude et des soumissions de résultats sommaires à ClinicalTrials.gov. Les dossiers d'étude et les résultats rapportés sont examinés par la Bibliothèque nationale de médecine (NLM) pour s'assurer qu'ils répondent à des normes de contrôle de qualité spécifiques avant d'être publiés sur le site Web public.

Dates principales de l'étude

Début de l'étude (Réel)

6 février 2026

Achèvement primaire (Estimé)

1 décembre 2028

Achèvement de l'étude (Estimé)

1 décembre 2028

Dates d'inscription aux études

Première soumission

28 janvier 2026

Première soumission répondant aux critères de contrôle qualité