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Identification of Pathogenic Gene Mutation Sites and Verification of Pathogenic Mechanisms in Families with Autosomal Dominant Skin Diseases in the Jiujiang Region

Identification of Pathogenic Gene Mutation Sites and Verification of Pathogenic Mechanisms in Families with Autosomal Dominant Skin Diseases in the Jiujiang Region

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2400092970
Enrollment
Unknown
Registered
2024-11-26
Start date
2025-01-01
Completion date
Unknown
Last updated
2024-12-02

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

Conditions

Autosomal dominant skin disease.

Interventions

Family Line 1:None
Family Line 2:None
Family Line 3:None
Family Line 4:None
Family Line 5:None
Family Line 6:None

Sponsors

Jiujiang university Affiliated Hospital
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: Patients with autosomal dominant skin disorders and their relatives, seeking treatment at the Dermatology Department of the Affiliated Hospital of Jiujiang University, must have a confirmed family history of autosomal dominant skin diseases and present typical clinical manifestations, such as characteristic skin lesions and age of onset. All participating family members are required to sign an informed consent form, acknowledging their understanding of the study's purpose, potential risks, and their rights.

Exclusion criteria

Exclusion criteria: Patients with previously identified mutation sites through genetic testing will be included; families that are unable to cooperate or do not consent to testing will be excluded

Design outcomes

Primary

MeasureTime frame
Exon sequence;—

Countries

China

Contacts

Public ContactQiuhe Song

Affiliated Hospital of Jiujiang University

songqiuhe@126.com+86 150 7924 9301

Outcome results

None listed

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