Vascular malformations: Part I.
Maria C Garzon, Jennifer T Huang, Odile Enjolras...
https://pubmed.ncbi.nlm.nih.gov/17317485Actively Recruiting
Led by Murdoch Childrens Research Institute · Updated on 2026-05-05
50
Participants Needed
2
Research Sites
137 weeks
Total Duration
M
Murdoch Childrens Research Institute
Lead Sponsor
P
Peter MacCallum Cancer Centre, Australia
Collaborating Sponsor
Researchers are evaluating targeted therapies for patients with vascular malformations, focusing on those whose conditions are resistant to standard treatments or when standard therapies are unsuitable. The study is a modular, open-label, phase II trial that classifies vascular malformations into slow-flow or fast-flow types based on clinical criteria. Genetic testing is used to identify specific gene mutations affecting either the PI3K or MAPK signaling pathways, which drive the growth of these malformations. The trial has two treatment modules over a 48-week period followed by 24 weeks of follow-up. Module 1 involves oral alpelisib therapy for patients with slow-flow vascular malformations linked to PI3K pathway mutations. Module 2 involves oral mirdametinib therapy for patients with fast-flow vascular malformations related to MAPK pathway mutations. Both treatments are taken as monotherapy and aim to assess the clinical effectiveness based on genetic mutation status. Participants will undergo genetic testing, clinical evaluations, and regular monitoring throughout the treatment and follow-up periods. Researchers will measure improvements in symptoms using the Vascular Malformation Patient Specific Outcome Measure (VM-PSOM) at 48 weeks to determine treatment response. Safety and adherence to therapy will be closely observed, ensuring participants comply with study protocols for the entire duration, which can last up to 72 weeks including follow-up.
CONDITIONS
A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations
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Total: 2 locations
1
Peter MacCallum Cancer Centre
Parkville, Victoria, Australia, 3052
Actively Recruiting
2
The Royal Children's Hospital
Parkville, Victoria, Australia, 3052
Actively Recruiting
M
Michelle de Silva, PhD
T
Tony Penington, MBBS, FRACS
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
PARALLEL
Primary Purpose
TREATMENT
Number of Arms
2
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