Treatment of Congenital Vascular Malformations Using Sirolimus: Improving Quality of Life

• Status: Active, not recruiting
• Trial end date: 2023-03-01
• Target enrollment: 0
• Participant gender: All

Summary

Congenital vascular anomalies are uncommon and belong to the group of rare diseases.These vascular malformations can cause serious complications including obstruction of vital organs and their function, recurrent infection and significantly reduced quality of life of persons affected.Treatment options range from conservative to surgical extirpation or intralesional embolisation/sclerosis. Unfortunately, this is often not enough. Many patients still have complaints like severe pain and invalidation due to the lymphatic or venous malformation making a normal functional life impossible. Recent case reports mention the positive effects of refractory patients with Sirolimus. Sirolimus, also known as rapamycin, is currently the only FDA-approved mammalian target of rapamycin (mTOR) inhibitor.

• Phase: Phase 3
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Radboud University
• Treatments: Everolimus; Sirolimus

Criteria

Inclusion Criteria:

• Diagnosis of Congenital venous malformation, or lymphatic malformation or combined.

• Age older than 1 yr.

• 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 heparins, 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

• Karnofsky score > 50

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 ≤ 50% of the normal predicted value and/or O2 saturation ≤ 88% at rest, etc.)

• Recent history of primary malignancy ≤ 5 years

• Impaired cardiac function or clinically significant cardiac diseases

• Immunocompromised patients, including known seropositivity for HIV

• Patient with any other concurrent severe and /or uncontrolled medical condition that would,in the investigator's judgment, contraindicated participation in the clinical study.

• Pregnant or lactating women

• Karnofsky score < 50