Vascular Anomaly Pathology and Genomics Biopsy Study

Not Applicable

Completed

• Conditions: Venous Malformation; Klippel Trenaunay Syndrome; Hemangioma; Vascular Anomaly; Arteriovenous Malformations; Vascular Malformations; Lymphatic Malformation
• Interventions: Procedure: Percutaneous Vascular Anomaly/Malformation Biopsy

• Registration Number: NCT04836884
• Lead Sponsor: Mayo Clinic

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.

Study Timeline

• Study First Submitted: 2021-03-25
• Study Start: 2021-04-06
• Study First Submitted QC: 2021-04-06
• Study First Posted: 2021-04-08
• Primary Completion: 2022-01-31
• Study Completion: 2022-01-31
• Status Verified: 2022-04
• Last Update Submitted: 2022-04-20
• Last Update Posted: 2022-04-21

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 3

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..

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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.

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Vascular anomaly/malformation biopsy	Percutaneous 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.

Primary Outcome Measures

Name	Time	Method
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.
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.

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Mayo Clinic in Rochester; 🇺🇸 Rochester, Minnesota, United States