Identification of Genetic Variants Associated With Lichen Sclerosus

NCT07720830 | Recruiting DMC

• 1 other identifier: BASEC Nr. 2025-01049
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

lichen sclerosus; family; genetic

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Novel Lichen sclerosus genes

  5 years

Other Outcomes (1)

• Novel LS genes

  5 years

Interventions

No Interventions OTHER

this is no interventional study

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Cohort of families with lichen sclerosus

You may qualify if:

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

You may not qualify if:

• No Family member with lichen sclerosus

Sponsors & Collaborators

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

Study Sites (1)

Medbase

Frauenfeld, Thurgau, 8500, Switzerland

RECRUITING

Related Publications (2)

• 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.

  PMID: 38822598 BACKGROUND

• 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.

  PMID: 38822578 BACKGROUND

Related Links

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

Biospecimen

Retention: SAMPLES WITH DNA

EDTA blood

MeSH Terms

Conditions

Lichen Sclerosus et Atrophicus

Condition Hierarchy (Ancestors)

Lichenoid Eruptions; Skin Diseases, Papulosquamous; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Gudula Kirtschig, Dr.

  Medbase

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Gudula Kirtschig, Medical doctor

CONTACT

0041527230202; g.kirtschig@gmail.com

Hirotsugu Oda, Prof. Dr.

CONTACT

+49 221 478 84088; hoda@uni-koeln.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Medical doctor, consultant dermatologist

Study Record Dates

• First Submitted: July 13, 2026
• First Posted: July 22, 2026
• Study Start: December 13, 2025
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2027
• Last Updated: July 22, 2026

Record last verified: 2026-07

Locations

CH (1)