What this study is
Background:
Some head and facial abnormalities are rare and present at birth. Others are more common, and may not show up until puberty. These conditions have different causes and characteristics. Researchers want to learn more about these conditions by comparing people with face, head, and neck abnormalities to family members and to healthy volunteers without such conditions.
Objectives:
To learn more about abnormal development of the face, head, and neck. To determine their genetic variants.
Eligibility:
People who have not had surgery for facial trauma:
People ages 2 and older with craniofacial abnormalities (may participate offsite)
Unaffected relatives ages 2 and older
Healthy volunteers ages 6 and older
Design:
Participants will be screened with medical history and physical exam focusing on head, face, and neck
Participants may be followed for several years. Visits may require staying near the clinic for a few days.
A visit is required for the following developmental stages, along with follow-up visits:
Age 2-6
Age 6-10
Age 11-17
Age 18 and older
Visits may include:
Medical history
Physical exam
Questionnaires
Oral exam
Blood and urine tests
Cheek swab: a cotton swab will be wiped across the inside of the cheek several times.
Cone beam CT scan (CBCT): x-rays create an image of the head, face, teeth, and neck. Participants will
stand still or sit on a chair for about 20 minutes while the scanner rotates around the head.
Photos of the head and face
Offsite participants will provide:
Copies of medical and dental records
Leftover tissue samples from previous surgery
Blood sample or cheek swab
Study details
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
- Conditions
- Prognathism · Retrognathism · Dentofacial Deformities
- Enrolling
- 2,400 people
- Starts
- 2016-04-18
- Est. completion
- 2046-12-31
- Record
- View on ClinicalTrials.gov ↗
Who can join
Age 2 Years – 100 YearsSex ALLHealthy volunteers AcceptedSubjects
You may qualify if
- 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.
You can't join if
- 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).
Healthy Volunteers
You may qualify if
- 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.
You can't join if
- Female volunteers who are pregnant or nursing.
- 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).
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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Study locations (1)
1 openNational Institutes of Health Clinical Center
Bethesda, Maryland, United States
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · Contact800-411-1222 ext. TTY dial 711ccopr@nih.gov
Recruiting
Study team
Sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
Study ID 160040
Principal investigator
Konstantinia Almpani, D.D.S.
National Institute of Dental and Craniofacial Research (NIDCR)
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.