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Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

Status
Completed
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT04351893
Acronym
CAUSE
Enrollment
935
Registered
2020-04-17
Start date
2018-02-23
Completion date
2023-08-30
Last updated
2024-04-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

Brief 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.

Interventions

None listed

Sponsors

Children's Hospital Los Angeles
CollaboratorOTHER
Children's Hospital of Philadelphia
CollaboratorOTHER
University of North Carolina, Chapel Hill
CollaboratorOTHER
Pontificia Universidad Javeriana
CollaboratorOTHER
Universidad Icesi
CollaboratorOTHER
Hospital Nacional Edgardo Rebagliati Martins
CollaboratorOTHER
Instituto de Investigación Hospital Universitario La Paz
CollaboratorOTHER
Clinica Comfamiliar Risaralda
CollaboratorUNKNOWN
Seattle Children's Hospital
Lead SponsorOTHER

Study design

Observational model
CASE_ONLY
Time perspective
PROSPECTIVE

Eligibility

Sex/Gender
ALL
Age
0 Years to 18 Years

Inclusion criteria

INCLUSION: 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.

Design outcomes

Primary

MeasureTime frameDescription
Identify Genetic VariantsThrough study completion, an average of 1 year.To identify genetic variants related to the CFM spectrum using whole genome sequencing

Secondary

MeasureTime frameDescription
Coding and non-coding variantsThrough study completion, an average of 1 year.To assess coding and non-coding variants in selected candidate genes in individuals with CFM
Characterize phenotypeThrough study completion, an average of 1 year.To characterize the detailed phenotype in individuals with CFM
Characterize markersThrough study completion, an average of 1 year.To characterize ancestry markers in individuals with CFM

Countries

Colombia, Peru, Spain, United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026