Understanding craniofacial anomalies and their genetic factors

Natural History of Craniofacial Anomalies and Developmental Growth Variants

This study is trying to find out how genetics play a role in craniofacial anomalies by comparing affected individuals with their healthy family members and volunteers.

Quick facts

• Study type: Observational
• Enrollment: 2400 (estimated)
• Ages: 2 Years to 100 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT02639312 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate craniofacial anomalies, which can be present at birth or develop during puberty. Researchers will compare individuals with these conditions to their unaffected family members and healthy volunteers to better understand the genetic variants associated with these abnormalities. Participants will undergo medical history screenings and physical exams, and may be followed for several years to collect extensive data on their conditions. The study will also establish a curated database of craniofacial phenotypes and genotypes.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 2 and older with craniofacial abnormalities, their unaffected relatives, and healthy volunteers aged 6 and older.

Not a fit: Patients who have undergone surgery for facial trauma may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and management of craniofacial anomalies, enhancing patient care and outcomes.

How similar studies have performed: While similar studies have explored craniofacial anomalies, this specific approach to characterizing genetic variants is novel and may provide new insights.

Eligibility criteria

* 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.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)

Study contacts

• Principal investigator: Konstantinia Almpani, D.D.S. — National Institute of Dental and Craniofacial Research (NIDCR)
• Study coordinator: Pamela M Orzechowski, R.N.

Conditions Prognathism; Retrognathism; Dentofacial Deformities; Craniofacial; Microsomia; Mandibular; Facial Defects; Hasburg Jaw