Vascular Anomaly Pathology and Genomics Biopsy Study

Mayo Clinic3 enrolled

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.

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

Allocation

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

Vascular Malformations Vascular Anomaly Hemangioma Arteriovenous Malformations Venous Malformation Klippel Trenaunay Syndrome Lymphatic Malformation

Interventions

Percutaneous Vascular Anomaly/Malformation BiopsyPROCEDURE

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.

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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.

Locations (1)

Mayo Clinic in Rochester

Rochester, Minnesota, United States

Outcomes

Primary Outcomes

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.

Time frame: 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.

Time frame: 18 months

Secondary Outcomes

Safety of vascular anomaly core biopsy

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

Time frame: 30 days

Data from ClinicalTrials.gov

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