Natural History of Craniofacial Anomalies and Developmental Growth Variants
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02639312|
Recruitment Status : Recruiting
First Posted : December 24, 2015
Last Update Posted : May 6, 2020
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.
To learn more about abnormal development of the face, head, and neck. To determine their genetic variants.
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
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:
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
|Condition or disease|
|Depression Down's Syndrome|
This is a natural history study that will examine craniofacial anomalies that affect the normal development of the facial skeleton, including birth defects and dentofacial developmental abnormalities that express themselves with the growth of the individual. Craniofacial anomalies may be rare and present at birth, such as hemifacial microsomia (1 in every 7500 live births), or common, such as dentofacial deformities including the Habsburg Jaw or mandibular prognathism (1% of the US population) that becomes apparent as a child enters puberty. These are striking disorders as they involve the face and surrounding structures, which is a focal point of self-identity and are intimately tied to quality of life and daily function. The primary objectives of this study are:
- To characterize rare and common craniofacial anomalies using both extensive clinical evaluations, 3D cone-beam computed tomography-based geometric morphometric and cephalometric analyses, and surface morphology
- To determine the genetic variants for rare and common craniofacial anomalies.
The secondary objective is to establish a curated craniofacial phenomic/genomic database. The study population includes individuals ages greater than or equal to 2 years with any craniofacial anomaly but will focus on two specific conditions that affect facial skeletal development: hemifacial microsomia and mandibular prognathism in children and adults. Up to 1920 subjects and family members as well as 480 healthy volunteers will be recruited through referrals from NIH or outside providers and institutions. This natural history protocol will generate research data that will improve the understanding and etiology of craniofacial dysmorphologies.
|Study Type :||Observational|
|Estimated Enrollment :||2400 participants|
|Official Title:||Natural History of Craniofacial Anomalies and Developmental Growth Variants|
|Actual Study Start Date :||April 18, 2016|
|Estimated Primary Completion Date :||April 18, 2036|
|Estimated Study Completion Date :||April 18, 2036|
- Database or registry [ Time Frame: 17 years ]using both extensive clinical evaluations, 3D cone-beam computed tomography-based geometric morphometric and cephalometric analyses, and surface morphology
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02639312
|Contact: Pamela M Orzechowski, R.N.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Janice S Lee, DDS, MD||National Institute of Dental and Craniofacial Research (NIDCR)|