Allogeneic blood or marrow transplantation (alloBMT) is a curative therapy for a variety of hematologic disorders, including sickle cell disease and thalassemia. Even when it is clear that alloBMT can give to these patients an improvement in their disease, myeloablative transplants have important toxicities and mortalities associated. The lack of suitable donors continues to be a limit to access to transplantation. Substantial progress has been made recently in the development of pre-treatment regimens that facilitate the sustained engraftment of donor marrow with reduced toxicity. Most of these regimens incorporate highly immunosuppressive drugs, which allow the reduction or elimination of myeloablative agents or total body irradiation without endangering the sustained engraftment of HLA-identical allogeneic stem cells. Preliminary results of non-myeloablative allogeneic stem cell transplantation suggest that the procedure can be performed in patients who are ineligible for myeloablative alloBMT, and that sustained remissions of several hematologic malignancies can be obtained.
The primary aim of this study is to evaluate the effect of the drug N-Acetylcysteine on the frequency of pain in daily life in patients with Sickle Cell Disease (SCD).
Pain is an invalidating hallmark of this disease and has a considerable impact on the Quality of Life of patients and the medical health care system. Oxidative stress is hypothesized to play a central role in its pathophysiology. In pilot studies the administration of N-Acetylcysteine (NAC) resulted in a reduction of oxidative stress. Moreover, administration of NAC seemed to decrease hospitalization for painful crises in a small pilot study in patients with SCD.
This study will be performed as a multicenter, randomized, controlled trial where patients will be treated with either NAC or placebo for a period of 6 months. The investigators expect that NAC can reduce the frequency of pain in patients with SCD, thereby improving their quality of life and participation in society.
A new article was added in IthaPedia under the category tag "Educational resources". The article, entitled "Preimplantation Genetic Diagnosis: general principles and focus on haemoglobinopathies", was written by Jan Traeger-Synodinos, Christina Vrettou, Aspasia Destouni, Georgia Kakourou and Emmanuel Kanavakis.
The ITHANET Team would like to thank the authors for their valuable contribution.
More information: IthaPedia
May 8 marks the international thalassaemia day aiming to raise awareness of the disease. On this special day, every year, Thalassaemia International Federation (TIF) focuses on a different theme that intervenes with the quality and appropriate treatment of patients and impacts their quality of life. This year TIF is bringing to the forefront the treatment around thalassaemia intermedia and is inviting all national thalassaemia associations across the world and other patient support groups to find out more about this disease, within the theme:
The right for quality health care of every patient with thalassaemia: major and beyond
The seventh meeting of the European Union Committee of Experts on Rare Diseases (EUCERD) took place on 31 January – 1 February 2013 in Luxembourg: the plenary session was preceded by breakout sessions by stakeholder group to discuss the draft EUCERD Recommendations on Common Principles and Consensus on patient registries and data collection for rare diseases.
The objective of this study is to evaluate the pharmacokinetics of deferiprone and its 3-O-glucuronide metabolite following administration of a single 1500 mg dose of Ferriprox in patients with sickle cell disease. The study, sponsored by ApoPharma, starts in May 2013 and the expected completion date is July 2013.