Vascular Anomaly Pathology and Genomics Biopsy Study

Validation of Core Biopsy of Vascular Anomalies for Clinical Pathology and Genomics

The purpose of this research is to gather information on the safety and effectiveness of core biopsy of vascular anomalies for clinical pathology and clinical genomics studies.

Study Overview

• Status: Completed
• Conditions: Hemangioma; Arteriovenous Malformations; Vascular Malformations; Lymphatic Malformation; Venous Malformation; Vascular Anomaly; Klippel Trenaunay Syndrome
• Intervention / Treatment: Procedure: Percutaneous Vascular Anomaly/Malformation Biopsy

Detailed Description

Vascular anomalies or vascular malformations often are treated with minimally invasive sclerotherapy, embolization or ablation based on clinical and imaging features without acquisition of tissue. Over the last two decades there have been significant advancements in the understanding of the genetic basis for various vascular anomalies/malformations, which may guide use of therapies for individualized treatment.

As such, given the emergence of novel medications for treatment of vascular anomalies/malformations based on genetic information, acquisition of tissue for pathology and genomic characterization will be increasingly important as treatment of vascular anomalies/vascular malformations moves toward individualized medicine approach.

• Study Type: Interventional
• Enrollment (Actual): 3
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Minnesota
    • Rochester, Minnesota, United States, 55905
      • Mayo Clinic in Rochester

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Patients with a clinical and imaging diagnosis of a vascular anomaly.
• No prior treatment for the vascular anomaly.
• Subjects undergoing clinically indicated sclerotherapy, embolization and/or ablation.
• Male or female with age greater than or equal to 18 years.
• Capacity and willingness to provide a written informed consent..

Exclusion Criteria:

• Subjects with prior treatment for their vascular anomaly.
• Uncorrectable coagulopathy.
• Pregnant and/or breast-feeding subjects. A negative pregnancy test within 48 hours of the procedure.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Vascular anomaly/malformation biopsy; Subjects with a vascular anomaly will have a research percutaneous vascular anomaly/malformation biopsy completed at the time of the clinically indicated percutaneous sclerotherapy, embolization and/or ablation.	Procedure: Percutaneous Vascular Anomaly/Malformation Biopsy; US-guided percutaneous vascular anomaly core needle biopsy of up to 10 cores using an 18-gauge co-axial core needle biopsy device at the time of clinically indicated sclerotherapy, embolization or ablation treatment.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Adequacy of core biopsy of vascular anomalies for clinical genomics studies	DNA and RNA will be extracted from the biopsy specimens, undergo qualitative/quantitative quality control assessment and be analyzed by whole genome sequencing (DNA) and RNA sequence analysis (RNA-seq) to determine the adequacy of vascular anomaly biopsy for vascular anomaly genomics characterization.	18 months
Adequacy of core biopsy of vascular anomalies for clinical pathology evaluation	Tissue from the vascular anomaly biopsies will undergo histopathology and immunohistochemical staining to determine the adequacy of vascular anomaly core biopsy for clinical pathology characterization.	18 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Safety of vascular anomaly core biopsy	Number of participants with biopsy-related adverse events as assessed by CTCAE v4.0	30 days

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Investigators: Principal Investigator: Emily Bendel, MD, Mayo Clinic; Principal Investigator: David A Woodrum, MD, PhD, Mayo Clinic

Publications and helpful links

Helpful Links

• Mayo Clinic Clinical Trials

Study record dates

Study Major Dates

• Study Start (Actual): April 6, 2021
• Primary Completion (Actual): January 31, 2022
• Study Completion (Actual): January 31, 2022

Study Registration Dates

• First Submitted: March 25, 2021
• First Submitted That Met QC Criteria: April 6, 2021
• First Posted (Actual): April 8, 2021

Study Record Updates

• Last Update Posted (Actual): April 21, 2022
• Last Update Submitted That Met QC Criteria: April 20, 2022
• Last Verified: April 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Neoplasms by Histologic Type; Neoplasms; Lymphatic Diseases; Cardiovascular Abnormalities; Neoplasms, Vascular Tissue; Lymphatic Vessel Tumors; Angiomatosis; Congenital Abnormalities; Hemangioma; Arteriovenous Malformations; Vascular Malformations; Lymphangioma; Lymphatic Abnormalities; Klippel-Trenaunay-Weber Syndrome
• Other Study ID Numbers: 20-011265

Drug and device information, study documents

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