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NCT Number: NCT07720830

Identification of Genetic Variants Associated With Lichen Sclerosus

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.

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Key information

Conditions

Lichen Sclerosus Lesion Lichen Sclerosus et Atrophicus Lichenoid Eruptions Skin Diseases Skin Diseases, Papulosquamous Skin and Connective Tissue Diseases

Age range

1 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Medbase

Frauenfeld, Thurgau, 8500, Switzerland

Location status: Recruiting

Location contact

Gudula Kirtschig, medical doctor

CONTACT

[email protected]

0041 527230202

About this study

The project plan is to identify genetic variants associated with lichen sclerosus. The investigators intend to identify differences in the genome in family members affected by LS and those who are not affected by LS.

The investigators hypothesize that enrollment and sequencing the genome of families with LS would lead to the discovery of novel genetic factors underlying LS. "Success" as measured by discovery of novel Mendelian genes will be inherent to our capacity to recruit a large number of families preferably with multiple affected individuals. This "opportunistic" and "somewhat untargeted" approach is essential to reach our aim of identifying novel LS-associated genes.

The investigators' project does not have classical primary and secondary endpoints as one or multiple parameters are not followed and because the study is not performed within a clinical trial frame. The investigators' primary endpoint will be having sequenced the exome/genome of families with LS and solved the segregation of variants of interest in the rest of the pedigree, "Number of participants with potential LS genes". The secondary endpoint will be the identification of novel LS genes, "Number of genes associated with LS identified".

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Individual with clinical or /and histological Lichen sclerosus
  • Family member of an individual with lichen sclerosus

Exclusion criteria

  • No Family member with lichen sclerosus

Treatment and study plan

No interventions

Other

this is no interventional study

Primary outcomes

  1. Identification of novel Lichen sclerosus genes

    Time frame: 5 years

    Our project does not have classical primary and secondary endpoints as we are not following one or multiple parameters and because we are not within a clinical trial frame. Our primary endpoint will be having sequenced the exome/genome of families with LS and solved the segregation of variants of interest in the rest of the pedigree "Number of Participants with potential LS genes". The secondary endpoint will be the identification of novel LS genes "Number of genes associated with LS identified".

Secondary outcomes

  1. Novel Lichen sclerosus genes

    Time frame: 5 years

    The secondary endpoint will be the identification of novel LS genes "Number of genes associated with LS identified".

Other outcomes

  1. Novel LS genes

    Time frame: 5 years

    Our project does not have classical primary and secondary endpoints as we are not following one or multiple parameters and because we are not within a clinical trial frame. Our primary endpoint will be having sequenced the exome/genome of families with LS and solved the segregation of variants of interest in the rest of the pedigree. The secondary endpoint will be the identification of novel LS genes.

Study contacts

Contact information is provided by the study sponsor or research team.

Gudula Kirtschig, Medical doctor

CONTACT

[email protected]

0041527230202

Hirotsugu Oda, Prof. Dr.

CONTACT

[email protected]

+49 221 478 84088

Sponsors and collaborators

Lead sponsor

Gudula Kirtschig

Other

Collaborators

  • CECAD Research Center
  • Gyn-Zentren, Luzern und Cham
  • Klinik für Kinderurologie in Kooperation mit der Universität Regensburg Krankenhaus Barmherzige Brüder Regensburg - Klinik St. Hedwig
  • Medbase

Registry information

Acronym: GENITALS

Important dates

Study start
2025
Primary completion
2026
Study completion
2027
First posted
Jul 22, 2026
Registry last updated
Jul 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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