Vascular Anomaly Pathology and Genomics Biopsy Study

Sponsor

Mayo Clinic (Other)

Overall Status

Completed

CT.gov ID

NCT04836884

Collaborator

(none)

Enrollment

Location

Arm

9.9

Actual Duration (Months)

0.3

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Vascular Malformations Vascular Anomaly Hemangioma Arteriovenous Malformations Venous Malformation Klippel Trenaunay Syndrome Lymphatic Malformation	Procedure: Percutaneous Vascular Anomaly/Malformation Biopsy	N/A

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 Design

Study Type:

Interventional

Actual Enrollment :

3 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Basic Science

Official Title:

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

Actual Study Start Date :

Apr 6, 2021

Actual Primary Completion Date :

Jan 31, 2022

Actual Study Completion Date :

Jan 31, 2022

Arms and Interventions

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.

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.

Outcome Measures

Primary Outcome Measures

Adequacy of core biopsy of vascular anomalies for clinical genomics studies [18 months]
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.
Adequacy of core biopsy of vascular anomalies for clinical pathology evaluation [18 months]
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.

Secondary Outcome Measures

Safety of vascular anomaly core biopsy [30 days]
Number of participants with biopsy-related adverse events as assessed by CTCAE v4.0

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.