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Phenotypic Identification of a de novo EYA1 pathogenic variant in Branchio-oto-renal Syndrome

Phenotypic Identification of a de novo EYA1 pathogenic variant in Branchio-oto-renal Syndrome

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2500105448
Enrollment
Unknown
Registered
2025-07-03
Start date
2025-07-07
Completion date
Unknown
Last updated
2025-07-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

The main clinical symptoms

Interventions

Sponsors

Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: 1.Amniotic fluid tissue from fetuses with BOR and peripheral blood samples from their parents; 2.Informed consent form with signature and date; 3.Commitment to comply with the research procedures and cooperate throughout the entire research process; 4.Meet specific disease diagnosis, symptoms, and signs; 5.Meet specific laboratory test results;

Exclusion criteria

Exclusion criteria: 1.The parents of the study subjects did not have hypertension, cardiovascular disease, diabetes, endocrine disorders, immune disorders, infectious diseases and so on;

Design outcomes

Primary

MeasureTime frame
the EYA1 characteristic site mutation cause transcriptional abnormalities;

Countries

China

Contacts

Public ContactZhao Yin

Union Hospital, Tongji Medical College, Huazhong University of Science and Technology

yinzily@126.com+86 13628623000

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026