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Massive database aims to unlock secrets of facial birth defects

NCT ID NCT07422454

Knowledge-focused Sponsor: Imagine Institute Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is creating a large database of genetic and physical information from 3100 children with craniofacial abnormalities, such as craniosynostosis and Pierre Robin sequence. Researchers will analyze this data to understand why these conditions vary so much from person to person. The goal is to improve diagnosis, predict outcomes, and design personalized treatment plans.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could lead to better diagnosis and personalized treatment plans for children with craniofacial abnormalities.
What could go wrong
This is an observational database study, not a treatment trial. It will not directly test any therapy, and results may take years to impact patient care.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 3,100 people

The number the study aims to enrol. It can still change while the study runs.

Started

Oct 2025

Expected to finish

Oct 2033

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

achondroplasia Craniofacial Abnormalities Facies hypochondroplasia isolated Pierre-Robin syndrome Muenke syndrome osteogenesis imperfecta Rare Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Craniofacial abnormalities

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Pr Stanislas Lyonnet

    RECRUITING

    Paris, France

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