Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology (CAUSE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04351893
Recruitment Status : Recruiting
First Posted : April 17, 2020
Last Update Posted : April 17, 2020
Sponsor:
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
Information provided by (Responsible Party):
Daniela Luquetti, Seattle Children's Hospital

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.

Condition or disease
Microtia Microtia-Anotia Craniofacial Microsomia Goldenhar Syndrome OAVS OAV Syndrome Hemifacial Microsomia

Layout table for study information
Study Type : Observational
Estimated Enrollment : 883 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology
Actual Study Start Date : February 23, 2018
Estimated Primary Completion Date : August 31, 2022
Estimated Study Completion Date : August 31, 2022





Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. Characterize phenotype [ Time Frame: Through study completion, an average of 1 year. ]
    To characterize the detailed phenotype in individuals with CFM

  2. Characterize markers [ Time Frame: Through study completion, an average of 1 year. ]
    To characterize ancestry markers in individuals with CFM

  3. Coding and non-coding variants [ Time Frame: Through study completion, an average of 1 year. ]
    To assess coding and non-coding variants in selected candidate genes in individuals with CFM


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.


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Sampling Method:   Non-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.
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04351893


Contacts
Layout table for location contacts
Contact: Laura P Stueckle, MPH 206-884-1254 laura.stueckle@seattlechildrens.org
Contact: Daniela Luquetti, MD, PhD 206-884-5120 daniela.luquetti@seattlechildrens.org

Locations
Layout table for location information
United States, California
Children's Hospital Los Angeles Recruiting
Los Angeles, California, United States, 90027
Contact: CAUSE Study       CAUSEstudy@seattlechildrens.org   
Principal Investigator: Alexis Johns, PhD         
United States, North Carolina
University of North Carolina Recruiting
Chapel Hill, North Carolina, United States, 27599
Contact: CAUSE Study       CAUSEstudy@seattlechildrens.org   
Principal Investigator: Amelia Drake, MD         
United States, Pennsylvania
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 90027
Contact: CAUSE Study       CAUSEstudy@seattlechildrens.org   
Principal Investigator: Leanne Magee, PhD         
United States, Washington
Seattle Children's Hospital Recruiting
Seattle, Washington, United States, 98101
Contact: CAUSE    206-884-1254    CAUSEstudy@seattlechildrens.org   
Contact: Laura Stueckle, MPH    206-884-1254    laura.stueckle@seattlechildrens.org   
Principal Investigator: Daniela Luquetti, MD, PhD         
Sub-Investigator: Carrie Heike, MS, MD         
Colombia
Pontificia Universidad Javeriana Recruiting
Bogotá, Colombia
Contact: Ignacio Zaran       CAUSEstudy@seattlechildrens.org   
ICESI Recruiting
Cali, Colombia
Contact: Harry Pachajo       CAUSEstudy@seattlechildrens.org   
Pontificia Universidad Javeriana Recruiting
Cali, Colombia
Contact: Paula Hurtad       CAUSEstudy@seattlechildrens.org   
Clínica Comfamiliar Risaralda Recruiting
Pereira, Colombia
Contact: Gloria Liliana Porras Hurtad       CAUSEstudy@seattlechildrens.org   
Peru
Hospital Edgardo Rebagliati Martins Recruiting
Lima, Peru
Contact: Milagros M. Dueñas Roq       CAUSEstudy@seattlechildrens.org   
Spain
Instituto de Genética Médica y Molecular (INGEMM) Recruiting
Madrid, Spain
Contact: Pablo Daniel Lapunzina Ba       CAUSEstudy@seattlechildrens.org   
Sponsors and Collaborators
Seattle Children's Hospital
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
Investigators
Layout table for investigator information
Principal Investigator: Daniela Luquetti, MD, PhD Seattle Children's
Layout table for additonal information
Responsible Party: Daniela Luquetti, Associate Professor, Seattle Children's Hospital
ClinicalTrials.gov Identifier: NCT04351893    
Other Study ID Numbers: 17-601-E
First Posted: April 17, 2020    Key Record Dates
Last Update Posted: April 17, 2020
Last Verified: April 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: Investigators do not plan to share, as CFM is a rare disease and could be potentially identifiable.

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
Layout table for MeSH terms
Goldenhar Syndrome
Congenital Microtia
Fetal Growth Retardation
Syndrome
Disease
Pathologic Processes
Ear Diseases
Otorhinolaryngologic Diseases
Congenital Abnormalities
Fetal Diseases
Pregnancy Complications
Growth Disorders
Mandibulofacial Dysostosis
Craniofacial Dysostosis
Dysostoses
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Craniofacial Abnormalities
Musculoskeletal Abnormalities