Clinical trial NCT04351893: Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology
Official title: Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Microtia
Microtia-Anotia
Craniofacial Microsomia
Goldenhar Syndrome
OAVS
OAV Syndrome
Hemifacial Microsomia
Lead sponsor: Seattle Children's Hospital
Sponsor class: OTHER
Collaborators: name: Children's Hospital Los Angeles
name: Children's Hospital of Philadelphia
name: University of North Carolina, Chapel Hill
name: Pontificia Universidad Javeriana
name: Universidad Icesi
name: Hospital Nacional Edgardo Rebagliati Martins
name: Instituto de Investigación Hospital Universitario La Paz
name: Clinica Comfamiliar Risaralda
First posted: 2020-04-17
Enrollment: 935
Sex: ALL
Minimum age (years): 0
Maximum age (years): 18
Standard ages: CHILD
ADULT
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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.


Eligibility 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.

Primary outcomes:
measure: Identify Genetic Variants
timeFrame: Through study completion, an average of 1 year.
Secondary outcomes:
measure: Characterize phenotype
timeFrame: Through study completion, an average of 1 year.
measure: Characterize markers
timeFrame: Through study completion, an average of 1 year.
measure: Coding and non-coding variants
timeFrame: Through study completion, an average of 1 year.
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Children's Hospital Los Angeles
state: California
city: Chapel Hill
country: United States
facility: University of North Carolina
state: North Carolina
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
city: Bogotá
country: Colombia
facility: Pontificia Universidad Javeriana
city: Cali
country: Colombia
facility: ICESI
city: Cali
country: Colombia
facility: Pontificia Universidad Javeriana
city: Pereira
country: Colombia
facility: Clínica Comfamiliar Risaralda
city: Lima
country: Peru
facility: Hospital Edgardo Rebagliati Martins
city: Madrid
country: Spain
facility: Instituto de Genética Médica y Molecular (INGEMM)
Study officials:
affiliation: Seattle Children's Hospital
name: Carrie Heike, MD, MS
role: PRINCIPAL_INVESTIGATOR
References: