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Vascular Anomaly Pathology and Genomics Biopsy Study

Primary Purpose

Vascular Malformations, Vascular Anomaly, Hemangioma

Status
Completed
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
Percutaneous Vascular Anomaly/Malformation Biopsy
Sponsored by
Mayo Clinic
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional basic science trial for Vascular Malformations

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept 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.

Sites / Locations

  • Mayo Clinic in Rochester

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Vascular anomaly/malformation biopsy

Arm Description

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.

Outcomes

Primary Outcome Measures

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.
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.

Secondary Outcome Measures

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

Full Information

First Posted
March 25, 2021
Last Updated
April 20, 2022
Sponsor
Mayo Clinic
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1. Study Identification

Unique Protocol Identification Number
NCT04836884
Brief Title
Vascular Anomaly Pathology and Genomics Biopsy Study
Official Title
Validation of Core Biopsy of Vascular Anomalies for Clinical Pathology and Genomics
Study Type
Interventional

2. Study Status

Record Verification Date
April 2022
Overall Recruitment Status
Completed
Study Start Date
April 6, 2021 (Actual)
Primary Completion Date
January 31, 2022 (Actual)
Study Completion Date
January 31, 2022 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Mayo Clinic

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No

5. 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.
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Vascular Malformations, Vascular Anomaly, Hemangioma, Arteriovenous Malformations, Venous Malformation, Klippel Trenaunay Syndrome, Lymphatic Malformation

7. Study Design

Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
3 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Vascular anomaly/malformation biopsy
Arm Type
Experimental
Arm Description
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.
Intervention Type
Procedure
Intervention Name(s)
Percutaneous Vascular Anomaly/Malformation Biopsy
Intervention Description
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.
Primary Outcome Measure Information:
Title
Adequacy of core biopsy of vascular anomalies for clinical genomics studies
Description
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.
Time Frame
18 months
Title
Adequacy of core biopsy of vascular anomalies for clinical pathology evaluation
Description
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.
Time Frame
18 months
Secondary Outcome Measure Information:
Title
Safety of vascular anomaly core biopsy
Description
Number of participants with biopsy-related adverse events as assessed by CTCAE v4.0
Time Frame
30 days

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Emily Bendel, MD
Organizational Affiliation
Mayo Clinic
Official's Role
Principal Investigator
First Name & Middle Initial & Last Name & Degree
David A Woodrum, MD, PhD
Organizational Affiliation
Mayo Clinic
Official's Role
Principal Investigator
Facility Information:
Facility Name
Mayo Clinic in Rochester
City
Rochester
State/Province
Minnesota
ZIP/Postal Code
55905
Country
United States

12. IPD Sharing Statement

Links:
URL
https://www.mayo.edu/research/clinical-trials
Description
Mayo Clinic Clinical Trials

Learn more about this trial

Vascular Anomaly Pathology and Genomics Biopsy Study

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