Clinical Trial: Natural History of Craniofacial Anomalies and Developmental Growth Variants
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Natural History of Craniofacial Anomalies and Developmental Growth Variants
Brief Summary:
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:
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.
Sponsor: National Institute of Dental and Craniofacial Research (NIDCR)
Current Primary Outcome: Database or registry [ Time Frame: Ongoing ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
Original Secondary Outcome:
Information By: National Institutes of Health Clinical Center (CC)
Dates:
Date Received: December 23, 2015
Date Started: December 17, 2015
Date Completion: November 1, 2034
Last Updated: April 21, 2017
Last Verified: March 16, 2017
