Clinical trial NCT03561428: Biomarkers of Lichen Sclerosus
Official title: Discovery and Validation of Biomarkers of Lichen Sclerosus
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Lichen Sclerosus
Keywords: lichen sclerosus
Lead sponsor: Center for Vulvovaginal Disorders
Sponsor class: OTHER
Collaborators: name: Gynecologic Cancer Research Foundation
name: George Washington University
First posted: 2018-06-19
Enrollment: 58
Sex: FEMALE
Minimum age (years): 18
Maximum age (years): 75
Standard ages: ADULT
OLDER_ADULT
Observational model: OTHER
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The total number of subjects to expected to be recruited are 58 total.

* six families with 2-3 family members affected in each family with LS
* 40 patients (sporadic) with active lichen sclerosus

Brief summary: Lichen sclerosus (LS) is a skin condition of the external genitals (vulva) of women. LS causes vulvar itching, pain, and burning. In addition, LS causes scarring of the vulva which may cause significant lack of sexual pleasure or pain. Lastly, 4-6% of women with LS will develop vulvar cancer. The purpose of this study is to learn the gene expression file changes in skins affected by LS as compared to normal skins in order to discover the mechanism of the LS, and further to develop effective drugs to treat the condition.

Detailed description: Lichen sclerosus (LS) is a chronic, lymphocyte mediated cutaneous disorder affecting approximately one in seventy women. Presenting symptoms may include intense pruritis, pain, burning, and dyspareunia. This disorder may affect any area of the skin, but has a notable predilection for the female genital region, in particular, the vulva, per anal area and the groin. Affected females outnumber affected males by 13:1. Typically, the patient is a menopausal woman, but prepubertal girls and women of all ages may be affected. The typical lesions of lichen sclerosus are white plaques and papules, often with areas of ecchymosis, excoriation, and ulceration. Often, there is destruction of the vulvar architecture with scarring of the clitoral prepuce, resorption of the labia minora, and narrowing of the introitus. Vulvar lichen sclerosus has a 4%-6% transformation malignant rate and women with the disease are at a 250-fold increased risk for developing vulvar carcinoma than women without lichen sclerosus. While the exact etiology of LS is as yet unknown, there is at least a suggested genetic component as evidenced by case reports of familial LS, findings of associations with HLA antigens, and high rates of concordance with other autoimmune disorder.

The purpose of this study is to determine the differences in the genomic/proteomic profiles between LS and normal skin biopsies for women with active vulvar lichen sclerosus in order to identify potential biomarkers that can be used for the prevention, early diagnosis and effective treatment for LS. The study will aim to identify genes/proteins/glycoproteins biomarkers that are associated with LS, select biomarkers associated with LS either individual candidate biomarker or as a panel, validate the identified candidate biomarkers for LS using targeted analysis of candidate biomarkers from independent LS specimen sets, develop assays to determine the clinical utilities of the identified biomarkers as minimum invasive tests for the early detection of LS and determine the clinical utility of biomarkers for biopsy-based tissue tests for LS diagnosis and treatment.

Eligibility criteria: Inclusion Criteria:

* 18-75 of age
* Diagnosis of active, Histologically proven, vulvar lichen sclerosus

Exclusion Criteria:

* Under the age of 18 or over the age of 75.
* Participants who are pregnant at the time of recruitment
* If, in the clinical opinion of Dr. Andrew Goldstein, she:

  * does not have active LS
  * has active infection
  * has evidence of any other dermatologic disease of the vulva
  * has evidence of neoplastic disease of the vulva
* If, in the opinion of Dr. Andrew Goldstein, they will be unable to keep the biopsy sites clean until they heal.
* If the biopsy specimen sent to dermatopathology is not confirmatory for active lichen sclerosus then the specimens obtained from that patient will be excluded from the study.

Primary outcomes:
measure: Differential gene expression between LS and normal vulvar skin tissue
timeFrame: 1-2 year
measure: Differential protein expression between LS and normal vulvar skin tissue
timeFrame: 1-2 year
measure: Identification of tissue-derived glycoproteins in serum
timeFrame: 1-2 years
Secondary outcomes:
Other outcomes:
Locations:
city: Washington
country: United States
facility: The Centers for Vulvovaginal Disorders
state: District of Columbia
Study officials:
affiliation: George Washington University School of Medicine and Health Sciences
name: Charles Macri, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: George Washington University School of Medicine and Health Sciences
name: Sidney Fu, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: The Center for Vulvovaginal Disorders
name: Andrew T Goldstein, MD
role: PRINCIPAL_INVESTIGATOR
References: