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Completed

NCT Number: NCT04836884

Vascular Anomaly Pathology and Genomics Biopsy Study

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.

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Key information

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Percutaneous Vascular Anomaly/Malformation Biopsy

Procedure

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 outcomes

  1. 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.

  2. 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 outcomes

  1. Safety of vascular anomaly core biopsy

    Time frame: 30 days

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

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Registry information

Official study title

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

Important dates

Study start
2021
Primary completion
2022
Study completion
2022
First posted
Apr 8, 2021
Registry last updated
Apr 21, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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