A clinical trial to assess the repurposing of sirolimus to induce fetal haemoglobin as a strategy to improve quality of life in beta thalassemia

Year of award: 2018


  • Dr Marco Prosdocimi

    Rare Partners

Project summary

Beta thalassemias are hereditary blood disorders caused by reduced or absent synthesis of haemoglobin beta chains. Patients can be clinically asymptomatic or experience severe anaemia. Survival rates have improved, even for patients requiring transfusions, but quality of life is poor for many patients.
Building on a Wellcome Trust Pathfinder award, our team has shown that the drug sirolimus can stimulate fetal haemoglobin (HbF) production. Stimulation of HbF results in a positive clinical outcome for people with beta thalassaemia, and pre-clinical evidence suggests that sirolimus can be used to treat the condition. A pilot clinical trial will explore the use of sirolimus in people with beta thalassemia by evaluating the effect it has on parameters related to red blood cell status and levels of HbF. 

This pilot study will be a first step towards the full clinical development of sirolimus in this new indication.