FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofaci... | NCT07422454

Studies
FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot Projects

NCT07422454

Sponsor

Imagine Institute

Status

Recruiting

Last Update Posted

Feb 20, 2026Actual

Enrollment

3,100Estimated

Phase

Not provided

Conditions

Craniofacial Abnormalities

Interventions

Not provided

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Dec 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 16, 2025Actual

Primary Completion Date

Oct 31, 2031Estimated

Completion Date

Oct 31, 2033Estimated

First Submitted Date

Aug 29, 2025

First Submission Date that Met QC Criteria

Feb 12, 2026

First Posted Date

Feb 20, 2026Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Feb 12, 2026

Last Update Posted Date

Feb 20, 2026Actual

Description Module

Brief 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.

Detailed Description

FACE.S-4-KIDS takes advantage of large cohorts of well-characterized and genotyped craniofacial anomaly patients, clinical departments (medical, surgical and imaging) with dysmorphology experts, and leading basic science laboratories, all located on a single site, and generating vast amounts of data - patient records, imaging, photographs, genomics, models - but lacking a unifying structure allowing multimodal assessments.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

3,100Estimated

Measure	Description	Time Frame
Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development		19 years

Measure	Description	Time Frame
Post-surgical clinical evolution profiles defined by changes in clinical, biological, and radiological parameters over time		19 years
High-resolution craniofacial phenotyping parameters and their association with disease severity scores		19 years

Eligibility Module

Eligibility Criteria

Inclusion Criteria for patients:

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.

Inclusion Criteria for controls:

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.

Non-inclusion Criteria:

Opposition of the patient or his parents to the reuse of their data from care in this study

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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 have consulted the Genetics, Pediatrics or Maxillofacial Surgery Departments at Necker, France.

Sampling Method

Non-Probability Sample

ID	Term
D019465	Craniofacial Abnormalities
D035583	Rare Diseases
D019066	Facies

ID	Term
D009139	Musculoskeletal Abnormalities
D009140	Musculoskeletal Diseases
D000013	Congenital Abnormalities
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities