Vascular Malformations
Conditions
Interventions
Intervention group:Gene detection and sirolimus therapy
Sponsors
Fujian Maternal and Child Health Hospital
Eligibility
Sex/Gender
All
Age
No minimum to 99 Years
Inclusion criteria
Inclusion criteria: (1) Confirmed CVM. (If there are tissue specimens, the diagnosis of CVM should be based on pathological results. If there are no tissue specimens, two or more doctors with intermediate or higher professional titles are required to consider the diagnosis.) (2) If there are clinical manifestations such as symptoms or signs, imaging examinations such as color Doppler ultrasound, CTA, or MRI should be performed. (3) Agree to undergo genetic testing of the affected tissue or local blood. (4) Agree to use targeted drugs such as mTOR inhibitors for treatment. (5) Agree to regularly follow up and undergo imaging examinations such as color Doppler ultrasound, CTA, or MRI. (6) The PI3K-Akt-mTOR pathway gene test was positive. (7) Patients who are unable to undergo routine treatment (such as surgical resection, interventional embolization, etc.) or whose routine treatment results are not satisfactory.
Exclusion criteria
Exclusion criteria: (1) No CVM related symptoms or signs. (2) No gene testing or targeted drug therapy such as mTOR inhibitors have been performed. (3) No ultrasound, CTA, or MRI examinations were performed before and after treatment. (4) Use other targeted therapeutic drugs during treatment and follow-up. (5) Participate in other clinical trials during treatment and follow-up.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Lesion size; | — |
Secondary
| Measure | Time frame |
|---|---|
| Evaluation of imaging efficacy; | — |
Countries
China
Contacts
Public ContactZHAN TENGHUI
Fujian Maternal and Child Health Hospital
Outcome results
None listed