MicrotiaCAUSENCT04351893
Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology
An observational study of Microtia and Microtia-Anotia, run by Seattle Children's Hospital at 10 sites in 4 countries.
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. Read more about this study
- Who is it for?
- Ages 0 to 18 years
- Conditions the study is for
- Microtia, Microtia-Anotia, Craniofacial Microsomia
- How many people
- 935 participants
- Where
- 10 sitesin 4 countries
- Study dates
- 23 Feb 2018to 30 Aug 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 18 years
- All sexes
- Child, Adult
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.
Who may be able to join
- 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)
Show all 21Show fewer
- 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
Who cannot join
- 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.
Trial locations and contacts
10 sites in 4 countries.
10 sites in 4 countries
United States4 sites
University of North Carolina
Chapel Hill, North Carolina, 27599
Children's Hospital Los Angeles
Los Angeles, California, 90027
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 90027
Seattle Children's Hospital
Seattle, Washington, 98101
Colombia4 sites
Pontificia Universidad Javeriana
Bogotá
ICESI
Cali
Pontificia Universidad Javeriana
Cali
Clínica Comfamiliar Risaralda
Pereira
About this study
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.
- Conditions
- Microtia, Microtia-Anotia, Craniofacial Microsomia, Goldenhar Syndrome, OAVS, OAV Syndrome
- Medical subject headings
- Congenital Microtia, Microtia-Anotia, Goldenhar Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Identify Genetic Variants
To identify genetic variants related to the CFM spectrum using whole genome sequencing
Measured: Through study completion, an average of 1 year.
Secondary outcomes (3)
Characterize phenotype
To characterize the detailed phenotype in individuals with CFM
Measured: Through study completion, an average of 1 year.
Characterize markers
To characterize ancestry markers in individuals with CFM
Measured: 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
Measured: Through study completion, an average of 1 year.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Apr 2020
- Study start23 Feb 2018
- Primary completion30 Nov 2021
- Study completion30 Aug 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MicrotiaStudies of the same condition, open and under way.
- More trials run by Seattle Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 935 participants (actual)
Sponsor and investigators
- Lead sponsor
- Seattle Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Children's Hospital Los Angeles, Children's Hospital of Philadelphia, University of North Carolina, Chapel Hill, Pontificia Universidad Javeriana, Universidad Icesi, Hospital Nacional Edgardo Rebagliati Martins, Instituto de Investigación Hospital Universitario La Paz, Clinica Comfamiliar Risaralda
- Responsible party
- Principal investigator, Carrie Heike, Seattle Children's Hospital
- Investigators
- Carrie Heike, MD, MS, Principal investigator, Seattle Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04351893
- Sponsor's protocol ID
- 17-601-E
- Acronym
- CAUSE
- Status last verified
- Apr 2024
- First submitted
- 11 Apr 2020
- Last updated
- 22 Apr 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Investigators do not plan to share, as CFM is a rare disease and could be potentially identifiable.
Study at a glance
From the registry record, last updated by the sponsor on 22 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology
- ClinicalTrials.gov ID
- NCT04351893
- Acronym / sponsor ID
- CAUSE / 17-601-E
- Conditions
- Microtia, Microtia-Anotia, Craniofacial Microsomia, Goldenhar Syndrome, OAVS, OAV Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 935 participants (actual)
- Lead sponsor
- Seattle Children's HospitalUniversity, hospital or other
- Collaborators
- Children's Hospital Los Angeles, Children's Hospital of Philadelphia, University of North Carolina, Chapel Hill, Pontificia Universidad Javeriana, Universidad Icesi, Hospital Nacional Edgardo Rebagliati Martins, Instituto de Investigación Hospital Universitario La Paz, Clinica Comfamiliar Risaralda
- Study start
- 23 Feb 2018 (actual)
- Primary completion
- 30 Nov 2021 (actual)
- Study completion
- 30 Aug 2023 (actual)
- First posted
- 17 Apr 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 0 to 18 years
- Sex
- All
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (21 listed)
- Participant with CFM is 0-18 years of age
- Participant has diagnosis of at least one of the following conditions:
- 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
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identify Genetic Variants
Time frame: Through study completion, an average of 1 year.
To identify genetic variants related to the CFM spectrum using whole genome sequencing
3 secondary outcomes
Characterize phenotype
Time frame: Through study completion, an average of 1 year.
Characterize markers
Time frame: Through study completion, an average of 1 year.
Coding and non-coding variants
Time frame: Through study completion, an average of 1 year.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Apr 2024.
- Individual participant dataSharing planned: No. Investigators do not plan to share, as CFM is a rare disease and could be potentially identifiable.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Carrie Heike, MD, MS principal investigator
Seattle Children's Hospital
10 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Microtia and Microtia-Anotia, run by Seattle Children's Hospital at 10 sites in 4 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 21 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in United States, Colombia, Peru, Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identify Genetic Variants (time frame: Through study completion, an average of 1 year.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Apr 2024.