Arteriovenous Malformations, Hemangioma, Klippel Trenaunay Syndrome, Lymphatic Malformation, Vascular Anomaly, Vascular Malformations, Venous Malformation
Conditions
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.
Interventions
PROCEDUREPercutaneous 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.
Sponsors
Mayo Clinic
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Safety of vascular anomaly core biopsy | 30 days | Number of participants with biopsy-related adverse events as assessed by CTCAE v4.0 |
Countries
United States
Outcome results
None listed