Retrospective multicenter correlation of characteristic mosaic mutations in vascular malformations with clinical and radiological phenotype

Retrospective multicenter correlation of characteristic mosaic mutations in vascular malformations with clinical and radiological phenotype - Molecular genetics malformations

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00031609

Enrollment

300

Registered

2023-09-20

Start date

2023-10-20

Completion date

Unknown

Last updated

2025-10-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Mosaic mutations in vascular malformations with the clinical and radiological phenotype..

Interventions

Group 1: The study population includes all patients with simple or mixed peripheral vascular malformations who underwent tissue biopsy of the vascular malformation and appropriate molecular genetic an

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: - Patients with a diagnosis of simple peripheral slow-flow vascular malformation (venous malformation, VM; lymphatic malformation, LM) and having had tissue biopsy of the malformation and molecular genetic analysis (see below) since 01.01.2019. - Patients with a diagnosis of simple peripheral fast-flow vascular malformation (arteriovenous malformation, AVM) and previous tissue biopsy of the malformation and molecular genetic analysis (see below) since 01.01.2019

Exclusion criteria

Exclusion criteria: - Patients with other vascular anomalies (e.g. vascular tumors) - Patients without previous tissue biopsy and/or genetic analysis in routine clinical practice.

Design outcomes

Primary

Measure	Time frame
Correlation of the presence of specific genetic alterations in vascular malformations with corresponding clinical and radiological characteristics to stratify patients with respect to risk of recurrence and response to therapy.	—

Secondary

Measure	Time frame
Further correlations with regard to the clinical phenotype depending on the underlying genotype, e.g. localization of the malformation, extension, growth behavior, expression of clinical symptoms	—

Countries

Germany

Contacts

Public ContactMoritz Wildgruber

LMU München

moritz.wildgruber@med.uni-muenchen.de+4989440076642

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026