The evolution of clinical research in thalassaemia: where has all the funding gone?

Abstract

In this issue of the British Journal of Haematology, a study is published on the various comorbidities and premature mortality of English patients with transfusion-dependent thalassaemia.1 A total of 612 such patients were identified, which is estimated to be approximately 85% of these patients who reside in England. Their crude 10-year mortality was over five times that of the general population (age- and sex-matched) and the median age at death was 45 years.1 Ethnicity data, available for 94% of the patients, most commonly showed an Asian origin (57% of the total), which included Pakistani, Indian, Bangladeshi and others. By way of comparison, three recent publications also describe the clinical outcome of patients with transfusion-dependent thalassaemia. One is from South India,2 in which 1 087 patients were studied. Their median survival was 26·9 years and they had many undertreated complications such as iron overload and transfusion-transmitted diseases. The mortality for children under 5 years of age was seven times higher than in the general population.2 The other two publications are from Italy. In one, the authors report that the median survival for Italian thalassaemia patients was not reached and the Kaplan–Meier analysis showed 75% survival at age approximately 50 years for both transfusion-dependent and non-transfusion-dependent patients.3 A more recent publication from Italy discusses the challenges of treating the ageing thalassaemia patient population.4 There are estimated to be around 6 000 patients with symptomatic thalassaemia in Italy who have a variety of health issues and require ongoing medical intervention which is given exclusively in specialized centres.4 These studies demonstrate that a major gap still exists in the care and prognosis of patients with thalassaemia, between regions of economic deprivation and regions with optimal health care. However, another significant difference in these studies is their funding. The study from India was funded by two philanthropic organizations based in India, as well as an international philanthropic organization and an Indian data management company. This company, which provided funding and co-authored the study, produces software for management of blood banking and haematological diseases. The study of Vitrano et al.3 was funded by a private Italian philanthropic organization which is dedicated to the care and research of thalassaemia. The study by Pinto et al.4 received no funding. The funding (and co-authorship) for the study published in this issue1 came from a biotechnology company which produces a retroviral vector for gene therapy. This group of studies highlights the diminishing resources for epidemiological and demographic studies of thalassaemia and its complications. Funding for medical research in general has decreased in the past years. Most sources of funding for thalassaemia have been channelled into either basic science or translational research or studies related to therapy, which are worthy areas for research. Nonetheless there is still a need for studies of outcome such as those cited above, for two reasons: (i) to highlight that globally, there is still much to strive for in terms of basic supportive care of thalassaemia patients, and disease prevention; and (ii) to evaluate the status of the thalassaemia patients residing in every country. Global migration is influencing the epidemiology of thalassaemia in the same way as has been documented for sickle cell anaemia.5 Countries such as the UK and USA have received a net influx of immigrants from countries with a high prevalence of haemoglobinopathies, such as Pakistan, Brazil and India,5 where thalassaemia is also common. Thus, the demography of patients is in a state of flux, and periodic re-evaluation is necessary in every country. Funding for such clinical studies is not readily available and some studies are performed by the researchers themselves without funding. Potential funding sources such as the Cooley’s Anemia Foundation in the USA and the Thalassemia Foundation of Canada generally support local research which is treatment-oriented (as can be seen from the list of projects funded, available on the organizations’ websites). Sizeable funding such as that from the National Institutes of Health is highly competitive and generally supports major projects in the fields of molecular biology and gene therapy.6 Thus, clinical studies of morbidity and survival in the developed world may be funded and even co-authored by corporate sources, as in the studies performed in India2 and England.1 The important consideration is not the funding source, but that the data is impartially presented and is made public for planning and resource allocation, both for the care of patients and for prevention of this serious disease. The manuscript was written entirely by Deborah Rund. No funding was received for the writing and preparation of the manuscript.