Ignite Creation Date:
2025-12-25 @ 1:18 AM
Ignite Modification Date:
2025-12-25 @ 11:26 PM
Study NCT ID:
NCT04351893
Status:
COMPLETED
Last Update Posted:
2024-04-22
First Post:
2020-04-11
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D065817', 'term': 'Congenital Microtia'}, {'id': 'C563457', 'term': 'Microtia-Anotia'}, {'id': 'D006053', 'term': 'Goldenhar Syndrome'}], 'ancestors': [{'id': 'D004427', 'term': 'Ear Diseases'}, {'id': 'D010038', 'term': 'Otorhinolaryngologic Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008342', 'term': 'Mandibulofacial Dysostosis'}, {'id': 'D003394', 'term': 'Craniofacial Dysostosis'}, {'id': 'D004413', 'term': 'Dysostoses'}, {'id': 'D001848', 'term': 'Bone Diseases, Developmental'}, {'id': 'D001847', 'term': 'Bone Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D019465', 'term': 'Craniofacial Abnormalities'}, {'id': 'D009139', 'term': 'Musculoskeletal Abnormalities'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Participants are asked for blood or saliva. If a participant is having a surgery, tissue that would otherwise be discarded would also be requested.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 935}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2018-02-23', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-04', 'completionDateStruct': {'date': '2023-08-30', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2024-04-18', 'studyFirstSubmitDate': '2020-04-11', 'studyFirstSubmitQcDate': '2020-04-16', 'lastUpdatePostDateStruct': {'date': '2024-04-22', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2020-04-17', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-11-30', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identify Genetic Variants', 'timeFrame': 'Through study completion, an average of 1 year.', 'description': 'To identify genetic variants related to the CFM spectrum using whole genome sequencing'}], 'secondaryOutcomes': [{'measure': 'Characterize phenotype', 'timeFrame': 'Through study completion, an average of 1 year.', 'description': 'To characterize the detailed phenotype in individuals with CFM'}, {'measure': 'Characterize markers', 'timeFrame': 'Through study completion, an average of 1 year.', 'description': 'To characterize ancestry markers in individuals with CFM'}, {'measure': 'Coding and non-coding variants', 'timeFrame': 'Through study completion, an average of 1 year.', 'description': 'To assess coding and non-coding variants in selected candidate genes in individuals with CFM'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Microtia', 'Microtia-Anotia', 'Craniofacial Microsomia', 'Goldenhar Syndrome', 'OAVS', 'OAV Syndrome', 'Hemifacial Microsomia']}, 'descriptionModule': {'briefSummary': '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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '0 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '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.', 'eligibilityCriteria': "INCLUSION:\n\nCases:\n\n* Participant with CFM is 0-18 years of age\n* Participant has diagnosis of at least one of the following conditions:\n\n * Microtia\n * Anotia\n * Facial asymmetry AND preauricular tag(s)\n * Facial asymmetry AND facial tag(s)\n * Facial asymmetry AND epibulbar dermoid\n * Facial asymmetry AND macrostomia (i.e., lateral cleft)\n * Preauricular tag AND epibulbar dermoid\n * Preauricular tag AND macrostomia\n * Facial Tag AND epibulbar dermoid\n * Macrostomia AND epibulbar dermoid\n* Participant's parent or legal guardian has provided written informed consent prior to enrollment into study (for participants younger than 18 years of age).\n* Participant speaks a language in which they are eligible for consent at their enrolling site\n\nParents:\n\n* 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.\n* Participant speaks a language in which they are eligible for consent at their enrolling site\n\nOther relatives:\n\n* 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).\n* Participant speaks a language in which they are eligible for consent at their enrolling site\n\nEXCLUSION:\n\nCases:\n\n* Participant is diagnosed with a known syndrome that involves microtia and underdevelopment of the jaw (Townes-Brocks, Treacher-Collins, Branchiootorenal, Nager, or Miller syndromes).\n* Participant has abnormal chromosome studies (karyotype).\n* Participant has mandibular asymmetry due to deformational plagiocephaly or torticollis."}, 'identificationModule': {'nctId': 'NCT04351893', 'acronym': 'CAUSE', 'briefTitle': 'Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology', 'organization': {'class': 'OTHER', 'fullName': "Seattle Children's Hospital"}, 'officialTitle': 'Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology', 'orgStudyIdInfo': {'id': '17-601-E'}}, 'contactsLocationsModule': {'locations': [{'zip': '90027', 'city': 'Los Angeles', 'state': 'California', 'country': 'United States', 'facility': "Children's Hospital Los Angeles", 'geoPoint': {'lat': 34.05223, 'lon': -118.24368}}, {'zip': '27599', 'city': 'Chapel Hill', 'state': 'North Carolina', 'country': 'United States', 'facility': 'University of North Carolina', 'geoPoint': {'lat': 35.9132, 'lon': -79.05584}}, {'zip': '90027', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'country': 'United States', 'facility': "Children's Hospital of Philadelphia", 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'zip': '98101', 'city': 'Seattle', 'state': 'Washington', 'country': 'United States', 'facility': "Seattle Children's Hospital", 'geoPoint': {'lat': 47.60621, 'lon': -122.33207}}, {'city': 'Bogotá', 'country': 'Colombia', 'facility': 'Pontificia Universidad Javeriana', 'geoPoint': {'lat': 4.60971, 'lon': -74.08175}}, {'city': 'Cali', 'country': 'Colombia', 'facility': 'ICESI', 'geoPoint': {'lat': 3.43054, 'lon': -76.5199}}, {'city': 'Cali', 'country': 'Colombia', 'facility': 'Pontificia Universidad Javeriana', 'geoPoint': {'lat': 3.43054, 'lon': -76.5199}}, {'city': 'Pereira', 'country': 'Colombia', 'facility': 'Clínica Comfamiliar Risaralda', 'geoPoint': {'lat': 4.81428, 'lon': -75.69488}}, {'city': 'Lima', 'country': 'Peru', 'facility': 'Hospital Edgardo Rebagliati Martins', 'geoPoint': {'lat': -12.04318, 'lon': -77.02824}}, {'city': 'Madrid', 'country': 'Spain', 'facility': 'Instituto de Genética Médica y Molecular (INGEMM)', 'geoPoint': {'lat': 40.4165, 'lon': -3.70256}}], 'overallOfficials': [{'name': 'Carrie Heike, MD, MS', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Seattle Children's Hospital"}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'Investigators do not plan to share, as CFM is a rare disease and could be potentially identifiable.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Seattle Children's Hospital", 'class': 'OTHER'}, 'collaborators': [{'name': "Children's Hospital Los Angeles", 'class': 'OTHER'}, {'name': "Children's Hospital of Philadelphia", 'class': 'OTHER'}, {'name': 'University of North Carolina, Chapel Hill', 'class': 'OTHER'}, {'name': 'Pontificia Universidad Javeriana', 'class': 'OTHER'}, {'name': 'Universidad Icesi', 'class': 'OTHER'}, {'name': 'Hospital Nacional Edgardo Rebagliati Martins', 'class': 'OTHER'}, {'name': 'Instituto de Investigación Hospital Universitario La Paz', 'class': 'OTHER'}, {'name': 'Clinica Comfamiliar Risaralda', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor', 'investigatorFullName': 'Carrie Heike', 'investigatorAffiliation': "Seattle Children's Hospital"}}}}