Sample Collection Study to Assess Prevalence of Gene Mutations: Establishing Population Norms

A Sample Collection Study to Assess the Prevalence of Gene Mutations Associated With Photoaging in Facial Skin From Adults: Establishing Population Norms

This is a multi-center, sample collection study to quantitatively assess the presence of gene mutations in subject's skin collected non-invasively. Subjects who consult with a dermatologist or other clinicians will be approached for participation in the study. Once IRB approved informed consent is obtain, subject demographic information, history of sun exposure and samples will be collected.

Study Overview

• Status: Recruiting
• Conditions: Photoaging
• Intervention / Treatment: Other: Mutation Burden

Detailed Description

This is a multi-center, sample collection study to quantitatively assess the presence of gene mutations in subject's skin collected non-invasively. Subjects who consult with a dermatologist or other clinicians will be approached for participation in the study. Once confirmation of participation is confirmed subjects will undergo the informed consent process.

Once consented the subject will have their medical history reviewed, concomitant medications and demographic information recorded, complete a sun-exposure questionnaire, have photoaging characteristics (such as melasma, wrinkles, AK lesion(s)) recorded, record their assessment of photoaging, have skin samples collected non-invasively and complete the local skin reaction and local tolerability assessments. A select number of subjects will also have a facial photograph taken.

If the location to be sampled contains a lesion, then the collection should occur as close as possible to the target area. The site staff and/or subject will be responsible for collecting the skin samples.

• Study Type: Observational
• Enrollment (Anticipated): 5000

Contacts and Locations

Study Locations

• United States
  • California
    • San Diego, California, United States, 92121
      • Recruiting
      • West Dermatology
      • Contact: Leslie Aguilar; Phone Number: 858-657-1004; Email: laguilar@CLDerm.com
      • Contact: Hannon

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 21 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Up to approximately 5,000 adults presenting to clinics for consultations will be enrolled into this study.

Subjects will be enrolled across a wide range of demographics and age ranges. A minimum of 3000 subjects of Fitzpatrick Skin Type I-III skin types (Group 1) and 1000 subjects of Fitzpatrick IV-VI (Group 2) will be enrolled. This will include, but is not limited to races such as Caucasian, African American, and subjects of Asian descent. At least 100 subjects per Fitzpatrick Skin Type group will be from the following age ranges; 21-30, 31-40, 41-50, 51-60 and >61 will be enrolled.

Description

Inclusion Criteria:

1. Males and females at least 21 years of age presenting to the clinic for medical consultation;
2. In good health, determined by no clinically significant findings from medical history,
3. Willing to complete all study procedures required by the protocol; and
4. Willing to provide informed consent to participate in this trial.

Exclusion Criteria:

1. Have any skin disorder including acne, rosacea, psoriasis, atopic dermatitis and active skin cancer(s) that appear in the facial area where sample collection will be taken and could confound the results of the trial;
2. Has a suspicious lesion (i.e., actinic keratosis lesion) in an area that is expected to be sampled and requires further medical follow-up,
3. Pregnant or breast feeding,
4. Hospitalization within 4 weeks before enrollment,
5. Previously provided samples for this study,
6. Receipt of any investigational drug therapy within four weeks of study enrollment, or concurrent participation in another interventional clinical study,
7. Documented substance abuse, any other significant medical condition that would indicate an unreasonable risk to the potential study participate or potential interference with the procedures, or would negatively affect the study subject's reliability and compliance with the study schedule of events, and
8. Chemical peel or treatment with a laser in the facial area within 3 months prior to enrollment.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Subjects with Fitzpatrick Skin Type I-III; Subjects 21 years of age or older with Fitzpatrick Skin Type I-III will be enrolled and analyzed by age.	Other: Mutation Burden; Subjects will have their facial samples analyzed for DNA mutation burden.
Subjects with Fitzpatrick Skin Type IV-VII; Subjects 21 years of age or older with Fitzpatrick Skin Type IV-VII will be enrolled and analyzed by age.	Other: Mutation Burden; Subjects will have their facial samples analyzed for DNA mutation burden.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Prevalence rate of mutations	The prevalence rate of selected DNA mutations will be quantitated	1 day

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Correlate gene mutations with demographic information	prevalence of mutations relative to age, sex, race and ethnicity	1 day
Correlation gene mutation with sun exposure scores	prevalence of mutations relative to life time sun exposure	1 day

Collaborators and Investigators

• Sponsor: DermTech
• Investigators: Study Director: Loren Clarke, MD, DermTech

Study record dates

Study Major Dates

• Study Start (Actual): February 12, 2021
• Primary Completion (Anticipated): June 15, 2022
• Study Completion (Anticipated): September 15, 2022

Study Registration Dates

• First Submitted: September 9, 2021
• First Submitted That Met QC Criteria: October 14, 2021
• First Posted (Actual): October 15, 2021

Study Record Updates

• Last Update Posted (Actual): October 15, 2021
• Last Update Submitted That Met QC Criteria: October 14, 2021
• Last Verified: September 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Skin Diseases
• Other Study ID Numbers: DermTech 21-02

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No