Multicenter Phenotype-Genotype Analysis of Vascular Stains to Optimize Treatment Utilizing Optical Coherence Tomography

NCT04772911 | Active Not Recruiting

• 4 other identifiers: 2020-1351A534300SMPH/DERMATOLOGYProtocol Version 6/9/2023
• Study Type: observational
• Target: 73
• Locations: 1 country
• Sites: 2

Brief Summary

The purpose of this research study is to develop a better understanding of vascular stains and to improve the usual laser treatment for vascular stain by using optical coherence tomography (OCT). A total of about 130 people will participate in this study.

Conditions

Vascular Stains

Outcome Measures

Primary Outcomes (1)

• Correlation between blood vessel size measured via OCT and genotype of affected tissues

  Targeted next generation sequencing (NGS) using a hybrid capture approach will be performed on DNA samples from affected tissues. OCT measurements of blood vessel size will be compared to genotype derived from biospecimen.

  up to 1 month

Secondary Outcomes (5)

• Change in the PROMIS Emotional Distress - Depression Short Form 8a Score

  baseline, 12 months, up to 24 months (participant will be asked to take survey every 12 months as long as the study is open)

• Change in the PROMIS Emotional Distress - Anxiety Short Form 8a Score

  baseline, 12 months, up to 24 months (participant will be asked to take survey every 12 months as long as the study is open)

• Change in the PROMIS Pediatric Peer Relationships Short Form 8a Score

  baseline, 12 months, up to 24 months (participant will be asked to take survey every 12 months as long as the study is open)

• Change in the PROMIS Pediatric Depressive Symptoms Short Form 8a Score

  baseline, 12 months, up to 24 months (participant will be asked to take survey every 12 months as long as the study is open)

• Change in the PROMIS Pediatric Anxiety Short Form 8a Score

  baseline, 12 months, up to 24 months (participant will be asked to take survey every 12 months as long as the study is open)

Other Outcomes (1)

• Correlation of genotype with phenotype

  up to 1 month

Study Arms (3)

Strata A: One-time OCT Measurements

The indication for Strata A is that some participants will elect not to undergo laser treatment, particularly if they have been extensively treated with laser previously, or have a light pink vascular stain that has been stable.

Device: Optical Coherence Tomography (OCT)

Strata B: Serial OCT Measurements

Participants will have serial OCT measurements of their vascular stain performed prior to the start of standard of care laser treatment. OCT will be performed prior to each standard of care laser treatment if the participant has elected to have standard of care laser treatment as treatment of their vascular stain at the time of enrollment.

Device: Optical Coherence Tomography (OCT)

Strata C: Laser SOC without OCT

Participants will have serial evaluation with standard of care laser treatment without use of OCT.

Interventions

Optical Coherence Tomography (OCT) DEVICE

OCT will be performed at baseline and prior to each standard of care laser treatment to characterize the mean diameter and depth of blood vessels.

Strata A: One-time OCT Measurements; Strata B: Serial OCT Measurements

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Diagnosed with a vascular stain on any anatomic location based on the discretion of the study physician

You may qualify if:

• Individual of any age from infant to adult
• Diagnosed with a vascular stain on any anatomic location based on the discretion of the study physician

Sponsors & Collaborators

• University of Wisconsin, Madison: lead

Study Sites (2)

University of California

Irvine, California, 92697, United States

Location

University of Wisconsin

Madison, Wisconsin, 53715, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Each collection will occur 1 time while the subject is on study if they consent to the sample collection. * Blood - approximately 4mL will be collected (approximately 5 min) * Saliva Sample - 1-2 tubes of saliva will be collected (approximately 2 min) * Skin Punch Biopsy (affected and normal skin area) - one or two 3-4mm punch biopsy will be taken (approximately 20 min) * Fresh surgical tissue - a small amount of fresh tissue, at least 3-4mm in diameter (no time commitment from the subject) * Slides/blocks - up to 10 unstained slides or a block of archived tissue will be requested. (no time commitment from the participant)

MeSH Terms

Interventions

Tomography, Optical Coherence

Intervention Hierarchy (Ancestors)

Tomography, Optical; Optical Imaging; Diagnostic Imaging; Diagnostic Techniques and Procedures; Diagnosis; Tomography; Investigative Techniques

Study Officials

• Lisa Arkin, MD

  University of Wisconsin, Madison

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 24, 2021
• First Posted: February 26, 2021
• Study Start: March 11, 2021
• Primary Completion: April 1, 2025
• Study Completion (Estimated): April 1, 2027
• Last Updated: May 30, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)