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

• Conditions: Photoaging
• Interventions: Other: Mutation Burden

• Registration Number: NCT05079737
• Lead Sponsor: DermTech

Brief Summary

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.

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 Timeline

• Study Start: 2021-02-12
• Status Verified: 2021-09
• Study First Submitted: 2021-09-09
• Study First Submitted QC: 2021-10-14
• Last Update Submitted: 2021-10-14
• Study First Posted: 2021-10-15
• Last Update Posted: 2021-10-15
• Primary Completion: 2022-06-15
• Study Completion: 2022-09-15

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 5000

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Subjects with Fitzpatrick Skin Type I-III	Mutation Burden	Subjects 21 years of age or older with Fitzpatrick Skin Type I-III will be enrolled and analyzed by age.
Subjects with Fitzpatrick Skin Type IV-VII	Mutation Burden	Subjects 21 years of age or older with Fitzpatrick Skin Type IV-VII will be enrolled and analyzed by age.

Primary Outcome Measures

Name	Time	Method
Prevalence rate of mutations	1 day	The prevalence rate of selected DNA mutations will be quantitated

Secondary Outcome Measures

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

Trial Locations

Locations (1)

West Dermatology; 🇺🇸 San Diego, California, United States