Genetic Basis of Rosacea

Validation of Candidate Rosacea Genes By Targeted Interrogation of Alleles and Assessment of Rosacea Co-morbidities

Rosacea is a common disease characterized by inflammation and vascular abnormalities of the facial skin and ocular surface. The exact pathogenesis of papulopustular rosacea is not well understood and current methods to treat this disease are often unsatisfactory. The purpose of this study is to develop gene expression profiles of papulopustular rosacea compared to those of normal skin. The investigators hope to better understand the abnormal gene functions that might contribute to this condition. This understanding may lead to the development of additional and better treatments for rosacea.

Study Overview

• Status: Completed
• Conditions: Rosacea
• Intervention / Treatment: Genetic: buccal swab

• Study Type: Observational
• Enrollment (Actual): 306

Contacts and Locations

Study Locations

• United States
  • California
    • Redwood City, California, United States, 94603
      • Stanford Dermatology

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

300 individuals will be enrolled, 150 with dermatologist verified rosacea and 150 without rosacea.

Description

Eligibility Criteria for Rosacea Group:

Inclusion criteria for rosacea participants:

1. Clinical signs and symptoms of rosacea (papulopustular or erythrotelangiectatic subtypes) present at enrollment as determined by the investigator
2. All four grandparents of European descent
3. Fitzpatrick skin type I or II
4. Age 18 years or older

Exclusion criteria for rosacea participants:

1. Unable or unwilling to provide written informed consent
2. Concomitant facial or medical condition that obscures diagnosis of rosacea (such as malar erythema from lupus erythematosus)
3. Acne vulgaris
4. Unable or unwilling to provide peripheral blood sample (a few teaspoons)
5. Inability for investigator to verify rosacea diagnosis on clinical examination due to rosacea treatment(s) leading to complete lack of signs and symptoms (such prior laser treatments, systemic tetracycline usage, etc.)
6. Use of topical prescription medications or procedures to the face within one month of enrollment
7. Women who are pregnant or lactating

Eligibility Criteria for Non-Rosacea Group:

Inclusion criteria for control participants:

1. No history of rosacea
2. No clinical signs or symptoms of rosacea
3. No family history of rosacea
4. All four grandparents of European descent
5. Fitzpatrick skin type I or II
6. Age 18 years or older

Exclusion criteria for control participants:

1. Unable or unwilling to provide written informed consent
2. Acne vulgaris
3. Unable or unwilling to provide peripheral blood sample (a few teaspoons)
4. Women who are pregnant or lactating
5. Use of topical prescription medications or procedures to the face within one month of enrollment
6. Skin conditions that might interfere with interpretation of procedure results (at the discretion of the investigator)

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Rosacea Group	Genetic: buccal swab; cheek swab for DNA sampling
Non-Rosacea Group	Genetic: buccal swab; cheek swab for DNA sampling

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Targeted interrogation of alleles and assessment of rosacea co-morbidities.	Up to 2 years

Collaborators and Investigators

• Sponsor: Stanford University

Study record dates

Study Major Dates

• Study Start (ACTUAL): April 13, 2012
• Primary Completion (ACTUAL): November 16, 2018
• Study Completion (ACTUAL): November 16, 2018

Study Registration Dates

• First Submitted: April 18, 2016
• First Submitted That Met QC Criteria: May 26, 2016
• First Posted (ESTIMATE): June 1, 2016

Study Record Updates

• Last Update Posted (ACTUAL): September 26, 2019
• Last Update Submitted That Met QC Criteria: September 24, 2019
• Last Verified: September 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Skin Diseases; Rosacea
• Other Study ID Numbers: R15006