Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

935 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-02-23

Study Completion Date

2023-08-30

Brief Summary

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The CAUSE study is a multicenter study, with domestic (n=4) and international (n=6) study sites. Children and young adults (ages 0-18) who have microtia and/or craniofacial microsomia and their parents are invited to participate. Children and parents are asked to provide a DNA sample (blood or saliva) and are asked to upload a few photos of their face. Parents are asked a short interview. Participants are able to participate from home or at one of four domestic sites.

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Detailed Description

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Conditions

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Microtia Microtia-Anotia Craniofacial Microsomia Goldenhar Syndrome OAVS OAV Syndrome Hemifacial Microsomia

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

Cases:

* Participant with CFM is 0-18 years of age
* Participant has diagnosis of at least one of the following conditions:

* Microtia
* Anotia
* Facial asymmetry AND preauricular tag(s)
* Facial asymmetry AND facial tag(s)
* Facial asymmetry AND epibulbar dermoid
* Facial asymmetry AND macrostomia (i.e., lateral cleft)
* Preauricular tag AND epibulbar dermoid
* Preauricular tag AND macrostomia
* Facial Tag AND epibulbar dermoid
* Macrostomia AND epibulbar dermoid
* Participant's parent or legal guardian has provided written informed consent prior to enrollment into study (for participants younger than 18 years of age).
* Participant speaks a language in which they are eligible for consent at their enrolling site

Parents:

* Parent participant is the biological parent of a case participant already eligible and participating in the CAUSE study. Non-genetic parents will be interviewed about their child's known prenatal and genetic family history but will not be asked to provide DNA or have facial photographs taken.
* Participant speaks a language in which they are eligible for consent at their enrolling site

Other relatives:

* Other relatives participants, of any age, are related biologically to a case participant already eligible and participating in the CAUSE study from a multiplex family (multiple affected individuals with CFM).
* Participant speaks a language in which they are eligible for consent at their enrolling site

EXCLUSION:

Cases:

* Participant is diagnosed with a known syndrome that involves microtia and underdevelopment of the jaw (Townes-Brocks, Treacher-Collins, Branchiootorenal, Nager, or Miller syndromes).
* Participant has abnormal chromosome studies (karyotype).
* Participant has mandibular asymmetry due to deformational plagiocephaly or torticollis.

Minimum Eligible Age

0 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No