THALAMOSS
Research type
Research Study
Full title
THALAssaemia MOdular Stratification System for personalized therapy of beta-thalassaemia.
IRAS ID
125108
Contact name
Stephan Menzel
Contact email
Research summary
Beta-thalassaemia and sickle cell disease (SCD) are the commonest inherited disorders affecting, worldwide, 300 000 new-borns annually. Both diseases are caused by mutations affecting the beta-globin gene. These mutations lead to reduced or abnormal haemoglobin, the oxygen carrier molecule of red blood cells. Although prevalent in the tropical and subtropical areas, due to trends in population migration, the disorders are now the commonest inherited blood disorders in Europe and USA.
Presently, patients affected by Beta-thalassaemia and SCD are treated with chronic blood transfusions, and supportive care including management of complications related to the disease and treatment, such as iron chelation therapy to reduce the excess iron (from the transfused blood). Both diseases are associated with lifelong debility and lifespan is much shortened compared to healthy individuals. Bone marrow transplantation is the only cure, but available only for a limited number of patients who have matched donors. Despite identical genetic mutations, disease severity varies tremendously both in beta-thalassaemia and SCD. One major modifying factor is the ability to produce foetal haemoglobin (HbF). This observation has encouraged therapeutic approaches to develop new drugs and gene therapy to increase HbF production. Currently, hydroxyurea is the only HbF increasing agent in use but only 60 to 80% of the SCD patients respond and its effect is limited in beta-thalassaemia. Studies have shown that hydroxyurea response is affected by the patient’s genetic background. Thus, there is a need not only for more effective agents to reactivate HbF production but also for a better understanding of the genetic factors that modify the disease severity and the response to therapy. In this context the study aims to integrate personal genetic/genomic information to generate a profile of disease severity and to develop a personalised care plan according to the patient’s medical needs.
REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
13/NE/0259
Date of REC Opinion
20 Aug 2013
REC opinion
Favourable Opinion