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Identification of Genetic Variants Associated With Lichen Sclerosus

NCT07720830 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2026-07-22

No results posted yet for this study

Summary

Lichen Sclerosus (LS) is a common genital skin condition that severely impacts on daily living. LS occurs worldwide but may be more common in the white population. The extragenital skin is involved in about 10% of reported patients, exact numbers are not known. LS is estimated to affect 0.1-0.3% of new patients in a general hospital patient population and 1.7% of patients referred to general gynaecological practice, however, the exact prevalence and incidence is not known. LS has a major impact on the quality of life, as symptoms of itching, pain and discomfort can make it difficult to sit, walk and go to the toilet. Having sex becomes painful because of erosions and fissures (break down of the skin), sometimes impossible because of irreversible fusion (sticking together) and sclerosis (hardening) of the genital skin. There is an increased risk of genital cancer in individuals with LS, this seems higher in familial cases. Next to a genetic background leading to a dysregulation of the immune system, certain external trigger mechanisms seem to play an important role in the development of LS.

In this project the investigators propose to identify pathogenic variants in novel protein-coding genes that may be involved in Lichen sclerosus using samples from families with members manifesting LS. Through elucidating underlying pathomechanims which have not yet been fully explored the development of novel treatments may be possible.

Conditions

  • Lichen Sclerosus Lesion

Interventions

OTHER

No Interventions

this is no interventional study

Sponsors & Collaborators

  • Medbase

    collaborator OTHER

  • CECAD Research Center

    collaborator UNKNOWN

  • Gyn-Zentren, Luzern und Cham

    collaborator UNKNOWN

  • Klinik für Kinderurologie in Kooperation mit der Universität Regensburg Krankenhaus Barmherzige Brüder Regensburg - Klinik St. Hedwig

    collaborator UNKNOWN

  • Gudula Kirtschig

    lead OTHER

Principal Investigators

  • Gudula Kirtschig, Dr. · Medbase

Eligibility

Min Age
1 Year
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-12-13
Primary Completion
2026-12-31
Completion
2027-12-31

Countries

  • Switzerland

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07720830 on ClinicalTrials.gov