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CompletedNCT04351893CAUSEUpdated Apr 22, 2024

Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

An observational study in Microtia, Microtia-Anotia and Craniofacial Microsomia, sponsored by Seattle Children's Hospital. Completed at 10 sites in 4 countries. Open to participants aged 0 Years to 18 Years. Per ClinicalTrials.gov, last updated 2024-04-22.

Sponsored by Seattle Children's Hospital · Observational

Study type
Observational
Model
Case-only
Time perspective
Prospective
Enrollment
935
Ages
0 Years to 18 Years
Sex
All
01

Study summary

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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Conditions studied

  • Microtia
  • Microtia-Anotia
  • Craniofacial Microsomia
  • Goldenhar Syndrome
  • OAVS
  • OAV Syndrome
  • Hemifacial Microsomia
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In context

Congenital Microtia

33 studies on the registry are indexed under Congenital Microtia; 10 are open to participants now.

Browse Congenital Microtia studies →

Lead sponsor

Seattle Children's Hospital is the lead sponsor of 210 studies on the registry; 43 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
0 Years to 18 Years
Sexes eligible
All
Sampling method
Non-probability sample

Study population

All CFM cases, their parents, and their relatives regardless of their sex, race, or ethnicity. The prospective case samples will likely be drawn from outpatient clinics and medical centers, as well as CFM-related social medial networks.

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 criteria

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.
05

Study design

Observational model
Case-only
Time perspective
Prospective
Enrollment
935 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. Identify Genetic Variants

    To identify genetic variants related to the CFM spectrum using whole genome sequencing

    Time frame: Through study completion, an average of 1 year.

Secondary outcomes

  1. Characterize phenotype

    To characterize the detailed phenotype in individuals with CFM

    Time frame: Through study completion, an average of 1 year.

  2. Characterize markers

    To characterize ancestry markers in individuals with CFM

    Time frame: Through study completion, an average of 1 year.

  3. Coding and non-coding variants

    To assess coding and non-coding variants in selected candidate genes in individuals with CFM

    Time frame: Through study completion, an average of 1 year.

07

Study locations

10 sites
  • Children's Hospital Los Angeles
    Los Angeles, California 90027, United States
  • University of North Carolina
    Chapel Hill, North Carolina 27599, United States
  • Children's Hospital of Philadelphia
    Philadelphia, Pennsylvania 90027, United States
  • Seattle Children's Hospital
    Seattle, Washington 98101, United States
  • Pontificia Universidad Javeriana
    Bogotá, Colombia
  • ICESI
    Cali, Colombia
  • Pontificia Universidad Javeriana
    Cali, Colombia
  • Clínica Comfamiliar Risaralda
    Pereira, Colombia
  • Hospital Edgardo Rebagliati Martins
    Lima, Peru
  • Instituto de Genética Médica y Molecular (INGEMM)
    Madrid, Spain
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References and documents

Individual participant data

Plan to share: No — Investigators do not plan to share, as CFM is a rare disease and could be potentially identifiable.

No publications or documents are linked to this record.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Apr 22, 2024, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT04351893
Lead sponsor
Seattle Children's Hospital
Collaborators
Children's Hospital Los Angeles, Children's Hospital of Philadelphia, University of North Carolina, Chapel Hill, Pontificia Universidad Javeriana, Universidad Icesi, Hospital Nacional Edgardo Rebagliati Martins, Instituto de Investigación Hospital Universitario La Paz, Clinica Comfamiliar Risaralda
Responsible party
Carrie Heike (Professor, Seattle Children's Hospital) — Principal investigator
First posted
Apr 17, 2020
Start date
Feb 23, 2018
Primary completion
Nov 30, 2021
Completion
Aug 30, 2023
Last update
Apr 22, 2024

Study contacts

Carrie Heike, MD, MS
principal investigator · Seattle Children's Hospital

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Apr 2024. You cannot join it, but the record below documents what was studied.

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Discussion

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