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Screening for Disease-Causing Genes and Analysis of Genetic Characteristics in a Familial Lichen Myxedematosus Pedigree Based on Whole-Exome Sequencing

Screening for Disease-Causing Genes and Analysis of Genetic Characteristics in a Familial Lichen Myxedematosus Pedigree Based on Whole-Exome Sequencing

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2500111200
Enrollment
Unknown
Registered
2025-10-28
Start date
2025-10-31
Completion date
Unknown
Last updated
2025-11-03

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

Conditions

Lichen myxedematosus (LM)

Interventions

Observation group of a single rare disease family:None

Sponsors

Nuclear Industry 416 Hospital
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: Given that this case involves a rare dermatological condition and only a single pedigree is available for study, formal inclusion criteria are not applicable.

Exclusion criteria

Exclusion criteria: As this is a rare dermatological condition with only a single available pedigree, formal exclusion criteria are not applicable.

Design outcomes

Primary

MeasureTime frame
Identification of candidate pathogenic variant;

Secondary

MeasureTime frame
Inheritance pattern of the candidate variant;Phenotypic association with Undifferentiated Connective Tissue Disease (UCTD);

Countries

China

Contacts

Public ContactLin Gan

Nuclear Industry 416 Hospital

1737069269@qq.com+86 138 8228 3567

Outcome results

None listed

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