Understanding craniofacial anomalies and their genetic factors

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• 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.
• Email: pamela.orzechowski@nih.gov
• Phone: (301) 402-7373

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.