NCT04351893

Brief 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.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
935

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Feb 2018

Longer than P75 for all trials

Geographic Reach
4 countries

10 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 23, 2018

Completed
2.1 years until next milestone

First Submitted

Initial submission to the registry

April 11, 2020

Completed
6 days until next milestone

First Posted

Study publicly available on registry

April 17, 2020

Completed
1.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 30, 2021

Completed
1.7 years until next milestone

Study Completion

Last participant's last visit for all outcomes

August 30, 2023

Completed
Last Updated

April 22, 2024

Status Verified

April 1, 2024

Enrollment Period

3.8 years

First QC Date

April 11, 2020

Last Update Submit

April 18, 2024

Conditions

MicrotiaMicrotia-AnotiaCraniofacial MicrosomiaGoldenhar SyndromeOAVSOAV SyndromeHemifacial Microsomia

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (3)

  • Characterize phenotype

    Through study completion, an average of 1 year.

  • Characterize markers

    Through study completion, an average of 1 year.

  • Coding and non-coding variants

    Through study completion, an average of 1 year.

Eligibility Criteria

Age0 Years - 18 Years
Sexall
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
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.

You may qualify if:

  • 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
  • +6 more criteria

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (10)

Children's Hospital Los Angeles

Los Angeles, California, 90027, United States

Location

University of North Carolina

Chapel Hill, North Carolina, 27599, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 90027, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98101, United States

Location

Pontificia Universidad Javeriana

Bogotá, Colombia

Location

ICESI

Cali, Colombia

Location

Pontificia Universidad Javeriana

Cali, Colombia

Location

Clínica Comfamiliar Risaralda

Pereira, Colombia

Location

Hospital Edgardo Rebagliati Martins

Lima, Peru

Location

Instituto de Genética Médica y Molecular (INGEMM)

Madrid, Spain

Location

Biospecimen

Retention: SAMPLES WITH DNA

Participants are asked for blood or saliva. If a participant is having a surgery, tissue that would otherwise be discarded would also be requested.

MeSH Terms

Conditions

Congenital MicrotiaMicrotia-AnotiaGoldenhar Syndrome

Condition Hierarchy (Ancestors)

Ear DiseasesOtorhinolaryngologic DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMandibulofacial DysostosisCraniofacial DysostosisDysostosesBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesCraniofacial AbnormalitiesMusculoskeletal Abnormalities

Study Officials

  • Carrie Heike, MD, MS

    Seattle Children's Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

April 11, 2020

First Posted

April 17, 2020

Study Start

February 23, 2018

Primary Completion

November 30, 2021

Study Completion

August 30, 2023

Last Updated

April 22, 2024

Record last verified: 2024-04

Data Sharing

IPD Sharing
Will not share

Investigators do not plan to share, as CFM is a rare disease and could be potentially identifiable.

Locations

ES(1)CO(4)US(4)PE(1)