Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

Microtia Clinical Trial

— CAUSE  

Official title:

Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04351893
• Other study ID #: 17-601-E
• Status: Completed
• Start date: February 23, 2018
• Est. completion date: August 30, 2023

Study information

• Verified date: April 2024
• Source: Seattle Children's Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 935
• Est. completion date: August 30, 2023
• Est. primary completion date: November 30, 2021
• Gender: All
• Age group: 0 Years to 18 Years

Eligibility

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.

Related Conditions & MeSH terms

• Craniofacial Microsomia
• Fetal Growth Retardation
• Goldenhar Syndrome
• Hemifacial Microsomia
• Microtia
• Microtia-Anotia
• OAV Syndrome
• OAVS
• Syndrome

Locations

Country	Name	City	State
Colombia	Pontificia Universidad Javeriana	Bogotá
Colombia	ICESI	Cali
Colombia	Pontificia Universidad Javeriana	Cali
Colombia	Clínica Comfamiliar Risaralda	Pereira
Peru	Hospital Edgardo Rebagliati Martins	Lima
Spain	Instituto de Genética Médica y Molecular (INGEMM)	Madrid
United States	University of North Carolina	Chapel Hill	North Carolina
United States	Children's Hospital Los Angeles	Los Angeles	California
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Seattle Children's Hospital	Seattle	Washington

Sponsors (9)

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

Countries where clinical trial is conducted

United States,  Colombia,  Peru,  Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identify Genetic Variants	To identify genetic variants related to the CFM spectrum using whole genome sequencing	Through study completion, an average of 1 year.
Secondary	Characterize phenotype	To characterize the detailed phenotype in individuals with CFM	Through study completion, an average of 1 year.
Secondary	Characterize markers	To characterize ancestry markers in individuals with CFM	Through study completion, an average of 1 year.
Secondary	Coding and non-coding variants	To assess coding and non-coding variants in selected candidate genes in individuals with CFM	Through study completion, an average of 1 year.