Congenital vascular malformation
disease diseaseOn this page
Also known as vascular malformation
Summary
Congenital vascular malformation (MONDO:0024287) is a disease and 38 clinical trials. Top therapeutic interventions include bleomycin, enalapril, and alpelisib. A subtype of vascular malformation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Clinical trials: 38
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | congenital vascular malformation |
| Mondo ID | MONDO:0024287 |
| NCIT | C112117 |
| UMLS | C1961121 |
| MedGen | 743837 |
| Is cancer (heuristic) | no |
Also known as: congenital vascular malformation · vascular malformation
Disease family
This is a subtype of vascular malformation. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › vascular malformation › congenital vascular malformation
Related subtypes (5): glomuvenous malformation, EPHB4-associated vascular malformation spectrum, splenic venous malformation, cerebral proliferative angiopathy, fibro-adipose vascular anomaly
Subtypes (1): Parkes Weber syndrome
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 38.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 23 |
| PHASE2 | 10 |
| PHASE3 | 4 |
| PHASE4 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04999618 | PHASE4 | COMPLETED | A New Approach in Laser Surgery Using the Regenerative Solution in Children Diagnosed With Vascular Pathology |
| NCT02638389 | PHASE3 | RECRUITING | Efficacy and Safety of Sirolimus in Vascular Anomalies That Are Refractory to Standard Care |
| NCT02384122 | PHASE3 | COMPLETED | Efficacy of Octreotide on Blood and Iron Requirements in Patients With Anemia Due to Angiodysplasias |
| NCT03110783 | PHASE3 | COMPLETED | Bioseal Dural Sealing Study BIOS-14-001 |
| NCT03987152 | PHASE3 | UNKNOWN | Treatment of Congenital Vascular Malformations Using Sirolimus: Improving Quality of Life |
| NCT05983159 | PHASE2 | RECRUITING | A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations |
| NCT06788314 | PHASE2 | RECRUITING | A Study of Enalapril in Treatment of Venous Malformations |
| NCT06789913 | PHASE2 | RECRUITING | A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation |
| NCT07037238 | PHASE2 | RECRUITING | An Open-Label, Single-Arm Exploratory Clinical Study of Everolimus for the Treatment of Vascular Malformations |
| NCT07477548 | PHASE2 | NOT_YET_RECRUITING | A Study to Evaluate the Efficacy and Safety of Everolimus in Patients With Teratment-refractory Vascular Anomalies |
| NCT07579962 | PHASE2 | NOT_YET_RECRUITING | Treatment of Low-flow Vascular Malformations With Bleomycin Electrosclerotherapy (BEST) |
| NCT02509468 | PHASE2 | COMPLETED | suPERficial Slow-flow Vascular malFORMations Treated With sirolimUS |
| NCT02754960 | PHASE2 | WITHDRAWN | Efficacy Study of Thalidomide in Gastrointestinal Vascular Malformation Related Bleeding |
| NCT02883023 | PHASE2 | UNKNOWN | Electrosclerotherapy for Capillary Malformations |
| NCT03972592 | PHASE2 | COMPLETED | Topical Sirolimus in Cutaneous Lymphatic Malformations |
| NCT00833599 | Not specified | ENROLLING_BY_INVITATION | Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders |
| NCT04104464 | Not specified | RECRUITING | Patient Reported Outcomes for Vascular Malformations EmbolizatioN (PROVEN) |
| NCT04189172 | Not specified | ACTIVE_NOT_RECRUITING | MiDura-Study (Neuro-Patch in Duraplasty) |
| NCT05418816 | Not specified | ACTIVE_NOT_RECRUITING | SelfWrap-Assisted Arteriovenous Fistulas |
| NCT06189092 | Not specified | RECRUITING | Treatment of Low-flow Venous Malformations With Electrosclerotherapy. Prospective Observational Study |
| NCT06259292 | Not specified | RECRUITING | Comprehensive HHT Outcomes Registry of the United States (CHORUS) |
| NCT06399367 | Not specified | ENROLLING_BY_INVITATION | Investigation of Lipedema, Lymphedema and Vascular Malformations by Multispectral Optoacoustic Tomography (MSOT) |
| NCT06986954 | Not specified | RECRUITING | Beacon Tip Sizing Catheter and Slip-Cath Beacon Tip Catheter Study |
| NCT06994260 | Not specified | NOT_YET_RECRUITING | Diagnostic Imaging of Vascular Malformations Using MSOT and ULM |
| NCT07404670 | Not specified | NOT_YET_RECRUITING | Microwave Ablation for Treatment of Vascular Malformations: Efficacy and Safety |
| NCT00577213 | Not specified | COMPLETED | Diagnosis of Hemangiomas and Vascular Malformations |
| NCT01576601 | Not specified | COMPLETED | The Management of Postoperative Craniotomy Pain in Pediatric Patients |
| NCT02250456 | Not specified | UNKNOWN | AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome) |
| NCT02561182 | Not specified | COMPLETED | Bone Health in Patients With Overgrowth |
| NCT02991352 | Not specified | COMPLETED | Stereotactic MRI Based Image Guidance for the Treatment of Vascular Malformations - a Pilot Study |
| NCT03440827 | Not specified | UNKNOWN | Development of a Specific Scale of Life’Quality for Children With Low-flow Vascular Malformations |
| NCT04637997 | Not specified | COMPLETED | Influence of Flat-knitted Compression Stockings Class I and II on Venous Malformations |
| NCT04836884 | Not specified | COMPLETED | Vascular Anomaly Pathology and Genomics Biopsy Study |
| NCT05113420 | Not specified | UNKNOWN | The Efficacy and Safety of Different Phlebotonic Drugs in Children With Venous Malformations |
| NCT05494710 | Not specified | UNKNOWN | Bleomycin Electrosclerotherapy Treatment of Vascular Malformations: A Feasibility Study |
| NCT05563831 | Not specified | COMPLETED | National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) |
| NCT06160739 | Not specified | UNKNOWN | Role of Sirolimus in Treatment of Microcystic , Mixed Lymphatic and Vascular Malformations |
| NCT07320430 | Not specified | COMPLETED | Comparative Study Between Sclerosing Agents Used in Treatment of Vascular Malformation |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| BLEOMYCIN | 4 | 3 |
| ENALAPRIL | 4 | 3 |
| ALPELISIB | 4 | 1 |
| OCTREOTIDE | 4 | 1 |
| MIRDAMETINIB | 2 | 1 |
| RLY-2608 | 1 | 1 |
| CHEMBL3350037 | 0 | 1 |
Related Atlas pages
- Drugs: Bleomycin, Enalapril, Alpelisib, Octreotide