Lichen Sclerosus LesionGENITALSNCT07720830
Identification of Genetic Variants Associated With Lichen Sclerosus
An observational study of Lichen Sclerosus Lesion, run by Gudula Kirtschig at 1 site in Switzerland.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year and olderHealthy volunteers can take part
- Conditions the study is for
- Lichen Sclerosus Lesion
- How many people
- 100 participants
- Where
- 1 siteSwitzerland
- Study dates
- 13 Dec 2025to 31 Dec 2027
- How long will I take part?
- 1 Day
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Cohort of families with lichen sclerosus
Who may be able to join
- Individual with clinical or /and histological Lichen sclerosus
- Family member of an individual with lichen sclerosus
Who cannot join
- No Family member with lichen sclerosus
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Switzerland1 site, 1 recruiting
- Recruiting
Medbase
Frauenfeld, Thurgau, 8500
Gudula Kirtschig, medical doctor, 0041 527230202, g.kirtschig@gmail.com
About this study
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.
Read the 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".
- Conditions
- Lichen Sclerosus Lesion
- Being tested
- No Interventions
- Keywords
- lichen sclerosus, family, genetic
- Medical subject headings
- Lichen Sclerosus et Atrophicus
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No InterventionsOther
this is no interventional study
What is being measured
The primary outcome is the main question the study is designed to answer.
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".
Measured: 5 years
Secondary outcomes (1)
Novel Lichen sclerosus genes
The secondary endpoint will be the identification of novel LS genes "Number of genes associated with LS identified".
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jul 2026
- Study start13 Dec 2025
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Lichen Sclerosus LesionStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 1 Day
Sponsor and investigators
- Lead sponsor
- Gudula Kirtschig
- Sponsor type
- University, hospital or other
- 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
- Responsible party
- Sponsor-investigator, Gudula Kirtschig, Medbase
- Investigators
- Gudula Kirtschig, Dr., Principal investigator, Medbase
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07720830
- Sponsor's protocol ID
- BASEC Nr. 2025-01049
- Acronym
- GENITALS
- Status last verified
- Jul 2026
- First submitted
- 13 Jul 2026
- Last updated
- 22 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: We are about to collect data and it will depend on the results if we have something to share
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.
PubMed 38822598Kirtschig 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.
PubMed 38822578
Study at a glance
From the registry record, last updated by the sponsor on 22 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Genetic Variants Associated With Lichen Sclerosus
- ClinicalTrials.gov ID
- NCT07720830
- Acronym / sponsor ID
- GENITALS / BASEC Nr. 2025-01049
- Conditions
- Lichen Sclerosus Lesion
- Keywords
- lichen sclerosus, family, genetic
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Gudula KirtschigUniversity, hospital or other
- 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
- Study start
- 13 Dec 2025 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 22 Jul 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 1 Day
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Cohort of families with lichen sclerosus
Key inclusion criteria (2 listed)
- Individual with clinical or /and histological Lichen sclerosus
- Family member of an individual with lichen sclerosus
Key exclusion criteria (1 listed)
- No Family member with lichen sclerosus
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No Interventionsthis is no interventional study | Other | – |
Primary outcome
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".
1 secondary outcome
Novel Lichen sclerosus genes
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jul 2026.
- Background: PubMed 38822598Kirtschig 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.
- Background: PubMed 38822578Kirtschig 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.
- Kirtschig G \& Kuik DJ, A Dutch Cohort Study Confirms Familial Occurrence of Anogenital Lichen Sclerosus. J Women's Health Care 2014, 3:6Link provided by the sponsor.
- Individual participant dataSharing planned: Undecided. We are about to collect data and it will depend on the results if we have something to share
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Gudula Kirtschig, Dr. principal investigator
Medbase
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lichen Sclerosus Lesion, run by Gudula Kirtschig at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 22 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Gudula Kirtschig, Medical doctor (0041527230202, g.kirtschig@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of novel Lichen sclerosus genes (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07720830, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jul 2026.