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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT04351893
Other study ID # 17-601-E
Secondary ID
Status Completed
Phase
First received
Last updated
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
Health authority
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
Accepts healthy volunteers
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.

Study Design


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.
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