Identification of Genetic Variants Associated With Lichen Sclerosus (GENITALS)

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.

Study Overview

• Status: Recruiting
• Conditions: Lichen Sclerosus Lesion
• Intervention / Treatment: Other: No Interventions

Detailed Description

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".

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Gudula Kirtschig, Medical doctor; Phone Number: 0041527230202; Email: g.kirtschig@gmail.com
• Study Contact Backup: Name: Hirotsugu Oda, Prof. Dr.; Phone Number: +49 221 478 84088; Email: hoda@uni-koeln.de

Study Locations

• Switzerland
  • Thurgau
    • Frauenfeld, Thurgau, Switzerland, 8500
      • Recruiting
      • Medbase
      • Contact: Gudula Kirtschig, medical doctor; Phone Number: 0041 527230202; Email: g.kirtschig@gmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Cohort of families with lichen sclerosus

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of novel Lichen sclerosus genes	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".	5 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Novel Lichen sclerosus genes	The secondary endpoint will be the identification of novel LS genes "Number of genes associated with LS identified".	5 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Novel LS genes	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.	5 years

Collaborators and Investigators

• Sponsor: Gudula Kirtschig
• Collaborators: Medbase; CECAD Research Center; Gyn-Zentren, Luzern und Cham; Klinik für Kinderurologie in Kooperation mit der Universität Regensburg Krankenhaus Barmherzige Brüder Regensburg - Klinik St. Hedwig
• Investigators: Principal Investigator: Gudula Kirtschig, Dr., Medbase

Publications and helpful links

General Publications

• Kirtschig G, Kinberger M, Kreuter A, Simpson R, Gunthert A, van Hees C, Becker K, Ramakers MJ, Corazza M, Muller S, von Seitzberg S, Boffa MJ, Stein R, Barbagli G, Chi CC, Dauendorffer JN, Fischer B, Gaskins M, Hiltunen-Back E, Hofinger A, Kollmann NH, Kuhn H, Larsen HK, Lazzeri M, Mendling W, Nikkels AF, Promm M, Rall KK, Regauer S, Sardy M, Sepp N, Thune T, Tsiogka A, Vassileva S, Voswinkel L, Wolber L, Werner RN. EuroGuiderm guideline on lichen sclerosus-Treatment of lichen sclerosus. J Eur Acad Dermatol Venereol. 2024 Oct;38(10):1874-1909. doi: 10.1111/jdv.20083. Epub 2024 Jun 1.
• Kirtschig G, Kinberger M, Kreuter A, Simpson R, Gunthert A, van Hees C, Becker K, Ramakers MJ, Corazza M, Muller S, von Seitzberg S, Boffa MJ, Stein R, Barbagli G, Chi CC, Dauendorffer JN, Fischer B, Gaskins M, Hiltunen-Back E, Hofinger A, Kollmann NH, Kuhn H, Larsen HK, Lazzeri M, Mendling W, Nikkels AF, Promm M, Rall KK, Regauer S, Sardy M, Sepp N, Thune T, Tsiogka A, Vassileva S, Voswinkel L, Wolber L, Werner RN. EuroGuiderm guideline on lichen sclerosus-introduction into lichen sclerosus. J Eur Acad Dermatol Venereol. 2024 Oct;38(10):1850-1873. doi: 10.1111/jdv.20082. Epub 2024 Jun 1.

Helpful Links

• Kirtschig G & Kuik DJ, A Dutch Cohort Study Confirms Familial Occurrence of Anogenital Lichen Sclerosus. J Women's Health Care 2014, 3:6

Study record dates

Study Major Dates

• Study Start (Actual): December 13, 2025
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2027

Study Registration Dates

• First Submitted: July 13, 2026
• First Submitted That Met QC Criteria: July 17, 2026
• First Posted (Actual): July 22, 2026

Study Record Updates

• Last Update Posted (Actual): July 22, 2026
• Last Update Submitted That Met QC Criteria: July 17, 2026
• Last Verified: July 1, 2026

More Information

Terms related to this study

• Keywords: family; genetic; lichen sclerosus
• Additional Relevant MeSH Terms: Lichenoid Eruptions; Skin Diseases, Papulosquamous; Skin Diseases; Skin and Connective Tissue Diseases; Lichen Sclerosus et Atrophicus
• Other Study ID Numbers: BASEC Nr. 2025-01049

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: We are about to collect data and it will depend on the results if we have something to share

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No