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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 : July 15, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Dental and Craniofacial Research (NIDCR) )

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


Condition or disease
Prognathism Dentofacial Deformities Hemifacial Macrosomia Craniofacial Microsomia

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. 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.


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Study Type : Observational
Estimated Enrollment : 2400 participants
Observational Model: Case-Control
Time Perspective: Other
Official Title: Natural History of Craniofacial Anomalies and Developmental Growth Variants
Actual Study Start Date : April 18, 2016
Estimated Primary Completion Date : May 24, 2020
Estimated Study Completion Date : May 24, 2020





Primary Outcome Measures :
  1. Database or registry [ Time Frame: Ongoing ]


Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years to 85 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

For Subjects:

  • Age greater than or equal to 2 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.
  • 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.
  • 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.


Information from the National Library of Medicine

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


Contacts
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Contact: Pamela M Orzechowski, R.N. (301) 402-7373 ps363q@nih.gov

Locations
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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    prpl@cc.nih.gov   
Sponsors and Collaborators
National Institute of Dental and Craniofacial Research (NIDCR)
Investigators
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Principal Investigator: Janice S Lee, DDS, MD National Institute of Dental and Craniofacial Research (NIDCR)

Additional Information:
Publications:
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Responsible Party: National Institute of Dental and Craniofacial Research (NIDCR)
ClinicalTrials.gov Identifier: NCT02639312     History of Changes
Other Study ID Numbers: 160040
16-D-0040
First Posted: December 24, 2015    Key Record Dates
Last Update Posted: July 15, 2019
Last Verified: July 9, 2019
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Dental and Craniofacial Research (NIDCR) ):
Cranofacial
Microsomia
Mandibular
Facial Defects
Hasburg Jaw
Additional relevant MeSH terms:
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Dentofacial Deformities
Goldenhar Syndrome
Prognathism
Craniofacial Abnormalities
Fetal Growth Retardation
Congenital Abnormalities
Pregnancy Complications
Fetal Diseases
Maxillofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Stomatognathic System Abnormalities
Stomatognathic Diseases
Growth Disorders
Pathologic Processes
Mandibulofacial Dysostosis
Craniofacial Dysostosis
Dysostoses
Bone Diseases, Developmental
Bone Diseases
Jaw Abnormalities
Jaw Diseases
Mandibular Diseases