GENITALSGenetic Variants and Lichen Sclerosus: Identification and Understanding
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.
Data Collection
Collected from today forward - ProspectiveSkin Diseases+2
+ Skin and Connective Tissue Diseases
+ Skin Diseases, Papulosquamous
Cohort
Tracking disease incidence in order to identify risk factors and understand disease progression over time.Summary
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".
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.100 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Cohort
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.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
Criteria
Study Plan
Find out more about all the medication administered in this study, their detailed description and what they involve.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