Testing SIROLIMUS in Beta-thalassemia Transfusion Dependent Patients
Status:
Active, not recruiting
Trial end date:
2021-10-31
Target enrollment:
Participant gender:
Summary
Beta-thalassemias are hereditary blood disorders caused by reduced or absent synthesis of
hemoglobin beta chains, with variable outcomes ranging from severe anemia to clinically
asymptomatic individuals. Treatment is symptomatic and thalassemia is a major unmet medical
need. Survival is increased, even in patients needing transfusions, in comparison with a few
years ago, but the quality of life is poor for many patients. In some patients, an anomalous
expression of gamma-globin genes has been observed, with a consequent rise in Fetal
Hemoglobin levels. The patients displaying a clinical phenotype known as Hereditary
Persistence of Fetal Hemoglobin (HPFH) exhibit a positive clinical status. To mimick HPFH,
several compounds able to induce expression of fetal hemoglobins (HbF) have been evaluated.
Within this framework, sirolimus is particularly interesting as an inducer of HbF. It has
been used for many years for different indications and the available preclinical evidence
warrant the start of a clinical development plan in thalassemia. The investigators propose a
clinical trial in beta-thalassemia patients, designed to evaluate the effect of sirolimus on
several parameters related to red blood cell status and to the level of HbF in particular, as
a first step for the full clinical development in this new indication.