Vascular Anomaly Pathology and Genomics Biopsy Study

Overview

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.

Full Title of Study: “Validation of Core Biopsy of Vascular Anomalies for Clinical Pathology and Genomics”

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: N/A
    • Intervention Model: Single Group Assignment
    • Primary Purpose: Basic Science
    • Masking: None (Open Label)
  • Study Primary Completion Date: January 31, 2022

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.

Interventions

  • 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.

Arms, Groups and Cohorts

  • 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.

Clinical Trial Outcome Measures

Primary Measures

  • Adequacy of core biopsy of vascular anomalies for clinical genomics studies
    • Time Frame: 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
    • Time Frame: 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 Measures

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

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Mayo Clinic
  • Provider of Information About this Clinical Study
    • Principal Investigator: Emily C. Bendel, M.D., Principal Investigator – Mayo Clinic
  • Overall Official(s)
    • Emily Bendel, MD, Principal Investigator, Mayo Clinic
    • David A Woodrum, MD, PhD, Principal Investigator, Mayo Clinic

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