congenital vascular malformations
Conditions
Interventions
quality of Life
Sirolimus
vascular malformation
The intervention is treatment with Sirolimus
mTor inhibitor
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
2 Years to 64 Years
Inclusion criteria
Inclusion criteria: • Diagnosis of Congenital venous malformation, or lymphatic malformation or combined. • Age between 1-70 years. • Patients (or legal guardians for children) have to be able to sign the informed consent • Patients are either refractory to standard care such as medical treatment (low molecular weight heparines, pain medication etc.), surgical resection and/or sclerotherapy/embolization (ineffective or accompanied by major complications) or there is no possibility for surgical intervention anymore. Only patients that have a normal clinical screening (no signs for infection, normal bone marrow function, normal liver and kidney function, normal glucose metabolism etc.) can be included. • Patients included have no cardiac impairment • Patients have no gastrointestinal impairment as Sirolimus is absorbed gastro-intestinal and normal function is needed • No other underlying medical disorder like Down syndrome or other syndromes • Women of reproductive age have to be informed that contraceptive methods are mandatory during the study time, pregnant women are excluded as also breast-feeding women • Karnofsky score > 50
Exclusion criteria
Exclusion criteria: • No written informed consent • Known hypersensitivity to drugs or metabolites from similar classes as study treatment • Patient has other concurrent severe and /or uncontrolled medical condition that would, in the investigator*s judgment, contraindicated participation in the clinical study (e.g. acute or chronic pancreatitis, liver cirrhosis, active chronic hepatitis, severely impaired lung function with a spirometry
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To investigate whether Sirolimus results in a significant and clinically relevant reduction of pain and an improved quality of life in patients with untreatable vascular malformations. | — |
Secondary
| Measure | Time frame |
|---|---|
| What length of therapy is required to have and maintain adequate pain reduction? Will response to Sirolimus prolong after stop treatment or will there be a rebound? Will Sirolimus only have effect on pain reduction or will Sirolimus also inhibit growth/progression of the vascular malformation or even lead to reduction of the size of the vascular malformation? Which long term consequences can be observed after treatment with Sirolimus e.g. in children? Are there genetic factors in the vascular malformation that can predict outcome of treatment with Sirolimus? Will Sirolimus lead to a more cost-effective treatment for this patient group? | — |
Countries
The Netherlands
Outcome results
None listed