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Natural History of Craniofacial Anomalies and Developmental Growth Variants

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ClinicalTrials.gov Identifier: NCT02639312
Recruitment Status : Recruiting
First Posted : December 24, 2015
Last Update Posted : May 23, 2022
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Dental and Craniofacial Research (NIDCR) )

Tracking Information
First Submitted Date December 23, 2015
First Posted Date December 24, 2015
Last Update Posted Date May 23, 2022
Actual Study Start Date April 18, 2016
Estimated Primary Completion Date April 18, 2036   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: December 19, 2019)
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
Original Primary Outcome Measures
 (submitted: December 23, 2015)
Database or registry [ Time Frame: Ongoing ]
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Natural History of Craniofacial Anomalies and Developmental Growth Variants
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:

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

Detailed Description

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:

  1. 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
  2. To determine the genetic variants for rare and common craniofacial anomalies.

The secondary objective is to establish a curated craniofacial phenomic/genomic database and to collect data related to clinically-indicated procedures and care performed at the NIH for the treatment of craniofacial disorders and anomalies. 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
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population -Subjects w/craniofacial anomalies or dentofacial deformities -Families of subjects with craniofacial anomalies or dentofacial deformities -Case Controls
Condition
  • Prognathism
  • Retrognathism
  • Dentofacial Deformities
Intervention Not Provided
Study Groups/Cohorts
  • 1
    hemifacial microsomia
  • 2
    mandibular prognathism
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: December 23, 2015)
2400
Original Estimated Enrollment Same as current
Estimated Study Completion Date April 18, 2036
Estimated Primary Completion Date April 18, 2036   (Final data collection date for primary outcome measure)
Eligibility Criteria
  • INCLUSION CRITERIA:

For Subjects:

  • Age greater than or equal to 2 to less than or equal 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.
  • greater than or equal to 2 years old to less than or equal 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.
  • Greater than or equal to 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:

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 (both are not required to participate).

For Healthy Volunteers:

-Female volunteers who are pregnant or nursing.

Sex/Gender
Sexes Eligible for Study: All
Ages 2 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Pamela M Orzechowski, R.N. (301) 402-7373 ps363q@nih.gov
Contact: Janice S Lee, DDS, MD (301) 827-1647 leejs2@mail.nih.gov
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02639312
Other Study ID Numbers 160040
16-D-0040
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Institute of Dental and Craniofacial Research (NIDCR) )
Study Sponsor National Institute of Dental and Craniofacial Research (NIDCR)
Collaborators Not Provided
Investigators
Principal Investigator: Janice S Lee, DDS, MD National Institute of Dental and Craniofacial Research (NIDCR)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date May 6, 2022