Tokyo, Sept. 8 -- UMIN Clinical Trials Registry (UMIN-CTR) received information related to the study (UMIN000062837) titled 'Development of a diagnostic system for precision medicine in refractory vascular anomalies' on Sept. 7.

Study Type: Observational

Primary Sponsor: Institute - Department of Pediatrics, Gifu University Graduate School of Medicine

Condition: Condition - Refractory vascular anomalies (vascular tumors and vascular malformations) as defined by the ISSVA classification, including generalized lymphatic anomaly, Gorham-Stout disease, lymphatic malformation, venous malformation, arteriovenous malformation, Klippel-Trenaunay-Weber syndrome, Sturge-Weber syndrome, blue rubber bleb nevus syndrome, and Kasabach-Merritt phenomenon Classification by malignancy - Others Genomic information - YES

Objective: Narrative objectives1 - In collaboration with the Japanese Society for the Study of Vascular Anomalies (JSSVA) and related research groups, this study aims (1) to establish a multidisciplinary Vascular Anomaly Expert Panel (VA-EP) that integrates clinical, imaging, pathological, and genetic information to improve diagnostic accuracy and standardize treatment decisions; (2) to develop standard operating procedures for genetic analysis of FFPE and frozen specimens; (3) to develop a highly sensitive method for detecting low-VAF variants by enrichment of lesional endothelial cells with CD31 sorting; (4) to evaluate the clinical applicability of cfDNA-based liquid biopsy; (5) to build a patient-centered model for returning genetic results by comparing return methods using patient-reported outcomes (PROs); and (6) to provide information in partnership with patient organizations. Through these activities, the study will build a diagnostic system for precision medicine in refractory vascular anomalies. Basic objectives2 - Others

Eligibility: Age-lower limit - Not applicable Age-upper limit - Not applicable Gender - Male and Female Key inclusion criteria - (1) Patients clinically diagnosed with, or strongly suspected of having, refractory vascular anomalies (vascular tumors or vascular malformations) according to the ISSVA classification, including generalized lymphatic anomaly, Gorham-Stout disease, lymphatic malformation, venous malformation, arteriovenous malformation, Klippel-Trenaunay-Weber syndrome, Sturge-Weber syndrome, blue rubber bleb nevus syndrome, and Kasabach-Merritt phenomenon. (2) Patients from whom tissue (frozen or FFPE), blood, or body fluid (lymph, cyst fluid, pleural effusion, ascites, etc.) specimens are obtained for diagnostic or therapeutic purposes, or have already been obtained and stored. (3) Patients meeting any of the following: (a) written informed consent obtained from the patient or a legally authorized representative; (b) patients whose specimens/data were obtained in the prior studies specified in the protocol, where the original consent covers use in this study or an opt-out procedure has been implemented at the providing institution without refusal; (c) patients whose existing specimens are used under an opt-out procedure at the providing institution without refusal. Key exclusion criteria - (1) Patients (or their legally authorized representatives) who do not consent to participation, or who refuse research use under the opt-out procedure. (2) Patients for whom tissue, blood, or body fluid specimens of adequate quality or quantity for analysis cannot be secured. (3) Patients judged by the principal investigator or co-investigators to be inappropriate for participation. Target Size - 450

Recruitment Status: Recruitment status - Open public recruiting Date of protocol fixation - 2026 Year 08 Month 16 Day Date of IRB - 2026 Year 09 Month 02 Day Anticipated trial start date - 2026 Year 09 Month 07 Day Last follow-up date - 2029 Year 03 Month 31 Day

To know more, visit https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000071937

Disclaimer: Curated by HT Syndication.