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Audiology and gene mutation analysis of a family with Alport's syndrome

Audiology and gene mutation analysis of a family with Alport's syndrome

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR1800014799
Enrollment
Unknown
Registered
2018-02-06
Start date
2013-04-22
Completion date
Unknown
Last updated
2018-02-12

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

Conditions

Alport's syndrome

Interventions

Patient:Drawing blood

Sponsors

Third Hospital of Peking University
Lead Sponsor

Eligibility

Sex/Gender
Male
Age
16 Years to 76 Years

Inclusion criteria

Inclusion criteria: The Alports' syndrome family contains 46 person, we collected the history information of 40 ones who is alive, made a physical and acoustic examination to 16 members, and analyzed their acoustic features. We extracted 15 members DNA, made a gene sequencing for COL4A5 gene.

Exclusion criteria

Exclusion criteria: People who did accept the examination.

Design outcomes

Primary

MeasureTime frame
hearing loss;—

Countries

China

Contacts

Public ContactFurong Ma

Otolaryngology Department, Third Hospital of Peking University

furongma@126.com+86 010 82266536

Outcome results

None listed

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