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.
Study Type
OBSERVATIONAL
Enrollment
935
Children's Hospital Los Angeles
Los Angeles, California, United States
University of North Carolina
Chapel Hill, North Carolina, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Seattle Children's Hospital
Seattle, Washington, 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
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.
Characterize phenotype
To characterize the detailed phenotype in individuals with CFM
Time frame: Through study completion, an average of 1 year.
Characterize markers
To characterize ancestry markers in individuals with CFM
Time frame: Through study completion, an average of 1 year.
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.
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