Deciphering the pathogenesis of skin disorders driven by genetic alterations via multi-omics analysis

Deciphering the pathogenesis of skin disorders driven by genetic alterations via multi-omics analysis - Deciphering the pathogenesis of skin disorders driven by genetic alterations via multi-omics analysis

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000059483

Enrollment

3600

Registered

2025-10-21

Start date

2023-04-21

Completion date

Unknown

Last updated

2026-06-29

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

Conditions

genodermatoses

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patients (and their relatives) diagnosed with any of the following conditions that manifest with symptoms involving the skin, including cutaneous adnexa (nails, hair, teeth) and mucosa (e.g., lips, oral cavity): (i) monogenic disorders; (ii) conditions for which a genetic background/predisposition is scientifically considered likely to contribute to disease onset; (iii) conditions for which acquired (somatic) genetic changes are scientifically considered likely to contribute to disease onset; (iv) undiagnosed disorders with cutaneous manifestations in which a genetic predisposition is inferred but the phenotype does not match any known disease.

Exclusion criteria

Exclusion criteria: (1) Patients with dementia or psychiatric disorders requiring treatment, or patients in a comatose state. (2) Patients whom the principal investigator judges to be unsuitable for inclusion in this study.

Design outcomes

Primary

Measure	Time frame
Identification of genetic alterations underlying skin diseases.	—

Countries

Japan

Contacts

Public ContactAi Yoshioka

Kobe University Graduate School of Medicine

aiichi39@med.kobe-u.ac.jp078-382-5111

Outcome results