RecruitingNCT07422454
FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot Projects
FACE.S-4-KIDS : FACE and SKULL for Key Innovative Data Science. Une Base de données de phénotypage Profond Des Anomalies Craniofaciales au Cours du développement
Sponsor
Imagine Institute
Enrollment
3,100 participants
Start Date
Oct 16, 2025
Study Type
OBSERVATIONAL
Conditions
Summary
FACE.S-4-KIDS is an ambitious database project addressing the scientific question of the variable expression of craniofacial disorders in humans, to reach a sound clinical management (diagnosis, prognosis), and the establishment of personalised treatment plans.
Eligibility
Inclusion Criteria12
- Patients suffering from one of the following pathologies:
- craniostenosis linked to FGFR signaling, achondroplasia / hypochondroplasia, osteogenesis imperfecta, Pierre Robin sequence (with or without anatomical markers).
- Patients who may or may not have benefited from genome sequencing as part of their care and who (or holders of parental authority where applicable) have consented to the conservation of the remains of their biological samples in one of these collections:
- Chondroplasia and craniostenosis,
- Constitutional Bone Diseases,
- Developmental anomalies.
- Patients who have undergone craniofacial imaging (CT or MRI) as part of their care.
- Patients who have consulted the Genetics, Pediatrics or Maxillofacial Surgery Departments at Necker, with none of these pathologies:
- FGFR-related craniosynostoses Chondroplasia / hypochondroplasia Osteogenesis imperfecta Pierre Robin sequence (with or without anatomical marker)
- Patients who have benefited from genome sequencing as part of their care and who have (or holders of parental authority where applicable) consented to the conservation of the remains of their biological samples in the "Infectious Diseases" collection .
- Patients who have undergone craniofacial imaging (CT or MRI) as part of their treatment.
- Opposition of the patient or his parents to the reuse of their data from care in this study
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Locations(1)
View Full Details on ClinicalTrials.gov
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NCT07422454