CompletedNot Applicable

Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

United States, Colombia, Peru935 participantsStarted 2018-02-23

Plain-language 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.

Who can participate

Age range

0 Years – 18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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: Cas…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Identify Genetic Variants

Timeframe: Through study completion, an average of 1 year.

Trial details

NCT IDNCT04351893

SponsorSeattle Children's Hospital

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2021-11-30

View on ClinicalTrials.gov More Microtia trials