Protocol Details
Natural History of Craniofacial Anomalies and Developmental Growth Variants
This study is currently recruiting participants.
Summary
Number | 16-D-0040 |
Sponsoring Institute | National Institute of Dental And Craniofacial Research (NIDCR) |
Recruitment Detail | Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Years
Max Age: 100 Years |
Referral Letter Required | No |
Population Exclusion(s) | None |
Keywords | Craniofacial;
Microsomia;
Mandibular;
Facial Defects;
Hasburg Jaw;
Natural History |
Recruitment Keyword(s) | None |
Condition(s) | Prognathism;
Retrognathism;
Dentofacial Deformities |
Investigational Drug(s) | None |
Investigational Device(s) | None |
Intervention(s) | None |
Supporting Site | National Institute of Dental and Craniofacial Research |
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
Eligibility
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.
Citations:
Proffit WR, Fields HW Jr, Moray LJ. Prevalence of malocclusion and orthodontic treatment need in the United States: estimates from the NHANES III survey. Int J Adult Orthodon Orthognath Surg. 1998;13(2):97-106. Cruz RM, Krieger H, Ferreira R, Mah J, Hartsfield J Jr, Oliveira S. Major gene and multifactorial inheritance of mandibular prognathism. Am J Med Genet A. 2008 Jan 1;146A(1):71-7. Frazier-Bowers S, Rincon-Rodriguez R, Zhou J, Alexander K, Lange E. Evidence of linkage in a Hispanic cohort with a Class III dentofacial phenotype. J Dent Res. 2009 Jan;88(1):56-60. doi: 10.1177/0022034508327817.
Contacts:
Clinical Trials Number:
NCT02639312