Biomarkers of Lichen Sclerosus

• ClinicalTrials.gov Identifier: NCT03561428
• Recruitment Status: Unknown
• First Posted: June 19, 2018
• Last Update Posted: June 19, 2018
• Sponsor: Center for Vulvovaginal Disorders
• Collaborators: Gynecologic Cancer Research Foundation; George Washington University
• Information provided by (Responsible Party): Andrew T. Goldstein, MD, Center for Vulvovaginal Disorders

Study Description

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.

Condition or disease
Lichen Sclerosus

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.

Study Design

• Study Type: Observational
• Estimated Enrollment: 58 participants
• Observational Model: Other
• Time Perspective: Cross-Sectional
• Official Title: Discovery and Validation of Biomarkers of Lichen Sclerosus
• Actual Study Start Date: November 27, 2017
• Estimated Primary Completion Date: November 26, 2019
• Estimated Study Completion Date: November 26, 2019

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

1. Differential gene expression between LS and normal vulvar skin tissue [ Time Frame: 1-2 year ]
   Gene expression obtained from biopsies via Next Generation Sequencing (RNASeq)
2. Differential protein expression between LS and normal vulvar skin tissue [ Time Frame: 1-2 year ]
   Protein expression obtained from biopsies via Western blot
3. Identification of tissue-derived glycoproteins in serum [ Time Frame: 1-2 years ]
   Glycoproteins identified via glycoproteomic technologies

Biospecimen Retention:   Samples With DNA

All samples obtained in this study will be processed for RNA, protein and DNA extraction, which will be used for gene expression analysis. The samples collected will be snap-frozen in liquid nitrogen before transporting, and store in a -80C degree freezer in the Department of Medicine at the George Washington University School of Medicine in Ross Hall for a period of 5 years for further verification studies if needed, and then they will be destroyed unless the patient has consented to future research on their samples. The patient's name will not be on these specimens, but will instead be given a study number.

Eligibility Criteria

• Ages Eligible for Study: 18 Years to 75 Years (Adult, Older Adult)
• Sexes Eligible for Study: Female
• Gender Based Eligibility: Yes
• 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

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.

Contacts and Locations

Contacts

Contact: Andrew T Goldstein, MD; 4102790209; obstetrics@yahoo.com

Contact: Charles Marci, MD; 202-741-2510

Locations

United States, District of Columbia

The Centers for Vulvovaginal Disorders; Recruiting

Washington, District of Columbia, United States, 20037

Contact: Andrew T Goldstein, MD 202-887-0568 drg.cvvd@gmail.com

Contact: Leia Mitchell, MD (202)887-0568 drg.cvvd@gmail.com

Sponsors and Collaborators

Center for Vulvovaginal Disorders

Gynecologic Cancer Research Foundation

George Washington University

Investigators

• Principal Investigator: Charles Macri, MD; George Washington University School of Medicine and Health Sciences
• Principal Investigator: Sidney Fu, MD, PhD; George Washington University School of Medicine and Health Sciences
• Principal Investigator: Andrew T Goldstein, MD; The Center for Vulvovaginal Disorders

More Information

Additional Information:

Informed Consent 

• Responsible Party: Andrew T. Goldstein, MD, Study Investigator, Center for Vulvovaginal Disorders
• ClinicalTrials.gov Identifier: NCT03561428
• Other Study ID Numbers: 091739
• First Posted: June 19, 2018
• Last Update Posted: June 19, 2018
• Last Verified: June 2018

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No
• Plan Description: The data will be summarized in publication and presentation. Individual results will not be communicated, and nor the study participants will be contacted about their results.

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Andrew T. Goldstein, MD, Center for Vulvovaginal Disorders:

lichen sclerosus

Additional relevant MeSH terms:

Lichen Sclerosus et Atrophicus; Lichenoid Eruptions; Skin Diseases, Papulosquamous; Skin Diseases