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Massive study seeks clues to facial differences

NCT ID NCT02639312

Knowledge-focused Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Aug 28, 2026 · Updated 3 times

Summary

This study aims to learn more about abnormal development of the face, head, and neck by comparing people with these conditions to their family members and healthy volunteers. Researchers will collect medical history, perform exams, take 3D images, and analyze genetic samples from up to 2,400 participants aged 2 and older. The goal is to better understand the causes and characteristics of these conditions, not to test a new treatment.

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 2,400 people

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

Started

Apr 2016

Expected to finish

Dec 2046

An estimate. End dates often move.

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

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

Who is studied

-Subjects w/craniofacial anomalies or dentofacial deformities -Families of subjects with craniofacial anomalies or dentofacial deformities -Case Controls

Ages

2 to 100 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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 Subjects: * Age \> 2 to \< 100 with craniofacial anomalies/abnormalities. Affected family member (defined as an individual with a demonstrable relationship, any family relationship no matter how distant, with the above subject in the pedigree) who expresses craniofacial anomalies will be classified as a subject. * Able to provide consent, or in the case of minors, have a legally authorized representative to provide consent. For Unaffected Family Members: * These family members are defined as individuals with a demonstrable relationship (any family relationship, no matter how distant) with a proband subject by pedigree who do not express craniofacial anomalies. * \>= 2 years old to \<= 100 years old. * Able to provide consent, or in the case of minors, have a legally authorized representative to provide consent. For Healthy Volunteers: * In good general health. -\>= 6 years old to \< 100 years old. * Able to provide consent, or in the case of minors, have a legally authorized representative to provide consent. * Absence of a craniofacial congenital anomaly or malocclusion. * No family history of a craniofacial syndrome. EXCLUSION CRITERIA: An individual who meets any of the following criteria will be excluded from participation in this study: For All Participants: * A history of facial trauma requiring surgical treatment and facial reconstruction. * Refusal for both genetic testing and CBCT imaging. Participants must agree to at least one of the two (one or the other is required to participate). For Healthy Volunteers: -Female volunteers who are pregnant or nursing.

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Conditions

The condition(s) this trial relates to.

autosomal dominant prognathism Dentofacial Deformities fetal growth restriction isolated Pierre-Robin syndrome Prognathism Retrognathia

As listed by the trial registrant

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

Dentofacial deformities Prognathism Retrognathism

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

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.