FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot Projects
Recruiting
Observational Study
Craniofacial Abnormalities
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Sex
Any
Study type
Observational
Participants needed
3,100 (estimated)
Sponsor
Imagine Institute · Other
Who this trial is looking for
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Answer a few quick questions to see if you may meet the eligibility requirements.
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.
Trial Locations
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Status
Eligibility Criteria
Inclusion Criteria for patients:
1. 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).
2. Patients who may or may not have ben…
Inclusion Criteria for patients:
1. 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).
2. 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.
3. Patients who have undergone craniofacial imaging (CT or MRI) as part of their care.
Inclusion Criteria for controls:
1. 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)
2. 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 .
3. Patients who have undergone craniofacial imaging (CT or MRI) as part of their treatment.
Non-inclusion Criteria:
Opposition of the patient or his parents to the reuse of their data from care in this study
Contacts
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