NCT07422454

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
3,100

participants targeted

Target at P75+ for all trials

Timeline
91mo left

Started Oct 2025

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress7%
Oct 2025Oct 2033

First Submitted

Initial submission to the registry

August 29, 2025

Completed
2 months until next milestone

Study Start

First participant enrolled

October 16, 2025

Completed
4 months until next milestone

First Posted

Study publicly available on registry

February 20, 2026

Completed
5.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 31, 2031

Expected
2 years until next milestone

Study Completion

Last participant's last visit for all outcomes

October 31, 2033

Last Updated

February 20, 2026

Status Verified

December 1, 2025

Enrollment Period

6 years

First QC Date

August 29, 2025

Last Update Submit

February 12, 2026

Conditions

Craniofacial Abnormalities

Keywords

GeneticsRare diseaseCraniofacial developmentDysmorphic syndromesDeep phenotypingFace and skull imaging

Outcome Measures

Primary Outcomes (1)

  • Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development

    19 years

Secondary Outcomes (4)

  • 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

  • Investigation of the origins of phenotypic variability linked to perturbations in a limited group of signaling pathways

    19 years

  • Identification and classification of genetic variants associated with posterior velopalatal cleft, with or without associated craniofacial or extra-craniofacial anomalies

    19 years

Study Arms (2)

Patients

Controls

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
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.

You may qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Pr Stanislas Lyonnet

Paris, France

RECRUITING

MeSH Terms

Conditions

Craniofacial AbnormalitiesRare DiseasesFacies

Condition Hierarchy (Ancestors)

Musculoskeletal AbnormalitiesMusculoskeletal DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 29, 2025

First Posted

February 20, 2026

Study Start

October 16, 2025

Primary Completion (Estimated)

October 31, 2031

Study Completion (Estimated)

October 31, 2033

Last Updated

February 20, 2026

Record last verified: 2025-12

Locations

FR(1)