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GENITALSGenetic Variants and Lichen Sclerosus: Identification and Understanding

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Study Aim

This observational study aims to identify novel genes associated with Lichen Sclerosus by sequencing the exome/genome of affected families and analyzing the segregation of variants of interest.

What is being collected

Data Collection

Collected from today forward - Prospective
OtherDNA Samples
Who is being recruted

Skin Diseases+2

+ Skin and Connective Tissue Diseases

+ Skin Diseases, Papulosquamous

Over 1 Years
+3 Eligibility Criteria
See all eligibility criteria
How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.
Observational
Study Start: December 2025
See protocol details

Summary

Principal SponsorGudula Kirtschig
Study ContactGudula Kirtschig, Medical doctorMore contacts
Last updated: July 22, 2026
Sourced from a government-validated database.Claim as a partner

Study start date: December 13, 2025

Actual date on which the first participant was enrolled.

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".

Principal SponsorGudula Kirtschig
Study ContactGudula Kirtschig, Medical doctorMore contacts
Last updated: July 22, 2026
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.
Design Details

100 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Cohort

These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.


Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria

Any sex

Biological sex of participants that are eligible to enroll.

Over 1 Years

Range of ages for which participants are eligible to join.

Healthy volunteers allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Skin DiseasesSkin and Connective Tissue DiseasesSkin Diseases, PapulosquamousLichenoid EruptionsLichen Sclerosus et Atrophicus

Criteria

2 inclusion criteria required to participate
Individual with clinical or /and histological Lichen sclerosus

Family member of an individual with lichen sclerosus

1 exclusion criteria prevent from participating
No Family member with lichen sclerosus

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.
Study Objectives

Study Objectives

Primary Objectives

Secondary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 1 location

Recruiting

Medbase

Frauenfeld, SwitzerlandOpen Medbase in Google Maps
Recruiting
One Study Center