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.
Aperçu de l'étude
Statut
Les conditions
Intervention / Traitement
Description détaillée
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".
Type d'étude
Inscription (Estimé)
Contacts et emplacements
Coordonnées de l'étude
- Nom: Gudula Kirtschig, Medical doctor
- Numéro de téléphone: 0041527230202
- E-mail: g.kirtschig@gmail.com
Sauvegarde des contacts de l'étude
- Nom: Hirotsugu Oda, Prof. Dr.
- Numéro de téléphone: +49 221 478 84088
- E-mail: hoda@uni-koeln.de
Lieux d'étude
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Thurgau
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Frauenfeld, Thurgau, Suisse, 8500
- Recrutement
- Medbase
-
Contact:
- Gudula Kirtschig, medical doctor
- Numéro de téléphone: 0041 527230202
- E-mail: g.kirtschig@gmail.com
-
-
Critères de participation
Critère d'éligibilité
Âges éligibles pour étudier
- Enfant
- Adulte
- Adulte plus âgé
Accepte les volontaires sains
Méthode d'échantillonnage
Population étudiée
La 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
Plan d'étude
Comment l'étude est-elle conçue ?
Détails de conception
Que mesure l'étude ?
Principaux critères de jugement
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
|
Identification of novel Lichen sclerosus genes
Délai: 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".
|
5 years
|
Mesures de résultats secondaires
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
|
Novel Lichen sclerosus genes
Délai: 5 years
|
The secondary endpoint will be the identification of novel LS genes "Number of genes associated with LS identified".
|
5 years
|
Autres mesures de résultats
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
|
Novel LS genes
Délai: 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.
The secondary endpoint will be the identification of novel LS genes.
|
5 years
|
Collaborateurs et enquêteurs
Parrainer
Collaborateurs
Les enquêteurs
- Chercheur principal: Gudula Kirtschig, Dr., Medbase
Publications et liens utiles
Publications générales
- 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.
Dates d'enregistrement des études
Dates principales de l'étude
Début de l'étude (Réel)
Achèvement primaire (Estimé)
Achèvement de l'étude (Estimé)
Dates d'inscription aux études
Première soumission
Première soumission répondant aux critères de contrôle qualité
Première publication (Réel)
Mises à jour des dossiers d'étude
Dernière mise à jour publiée (Réel)
Dernière mise à jour soumise répondant aux critères de contrôle qualité
Dernière vérification
Plus d'information
Termes liés à cette étude
Mots clés
Termes MeSH pertinents supplémentaires
Autres numéros d'identification d'étude
- BASEC Nr. 2025-01049
Plan pour les données individuelles des participants (IPD)
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Description du régime IPD
Informations sur les médicaments et les dispositifs, documents d'étude
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