The 29th February, 2016 marked the ninth international Rare Disease Day coordinated by EURORDIS . The main objective of Rare Disease Day was to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign targeted primarily the general public and also sought to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage. The political momentum resulting from Rare Disease Day also serves advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries. Even though the campaign started as a European event, it has progressively become a world phenomenon, with the USA joining in 2009, and with the participation of a record-breaking 85 countries and regions around the world in 2015.

The theme of Rare Disease Day 2016 “Patient Voice” – paying tribute to the millions of people whose lives are affected by a rare disease and also to their families, friends and loved ones, who stand by them and support them every step of the way – recognized the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers. A call to solidarity and to the acknowledgement of rare diseases as a real problem, not to be dismissed under the veil of indifference. In particular, the Rare Disease Day 2016 slogan “Join us in making the voice of rare diseases heard” appealed to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases.
DEEP project welcomed this initiative and has been pleased to contribute to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Due to the fragmentation of knowledge, it can take years before a patient affected by rare diseases get diagnosed. DEEP considers the promotion and the coordination of Research extremely important for health care system, and particularly for Rare Diseases, since they represent the tools by which speed up the achievements in research and benefits for patients. This year Rare Disease Day encourages us to continue finding ways to work together to raise awareness on haemoglobinopathies and make the voice of patients affected by thalassaemia and other haemoglobin disorders heard to a wider audience and highlight their needs to equal access to quality health care.

DEEP joined this event by becoming a friend of Rare Disease Day, showing its support on its official website and social networks.

For more info about the rare disease day, please visit http://www.rarediseaseday.org/

The report covers the period from 01/01/2011 (project start date) to 31/12/2013 and takes into consideration that DEEP, originally planned as a 4 year project, has faced three amendments of the Description of Work with prolongation of the project for 20 months. Although have produced delays in the start-up of the clinical studies and related tasks, these changes have been considered as highly justified and will improve the output and impact of the DEEP project. Indeed, the major delays in DEEP project during the last years were related to the requests of changes in the PIP and long lasting ethical approvals. So, now that the majority of centres have already received the approvals for the clinical trial it should be easier to continue with the related tasks.

It was particularly highlighted that the DEEP project has made sufficient progress and is ready to reach the goals and to contribute to the improvement of the clinical management of children with transfusion-dependent thalaessemia and other hemoglobinopathies who need chelation therapy. The whole project and the individual workpackages have been making satisfactory progress, as well as results of this study provide scientific evidence that the dosage of deferiprone used in adults can be effective also in small children.

Regarding the recruitment rate, Dr. Plaseska-Karanfilsk stressed that the measures undertaken by the Project Management Team (PMT) have been successful and that DEEP-2 and DEEP-3 studies have been recruiting patients with an increasing rate, ensuring that the objectives could be reached by the end of the project.

The expert continues encouraging the project Partners to strengthen the efforts towards recruiting increasing number of patients in the DEEP-2 and DEEP-3 studies in order to ensure finalization of these clinical studies which are very important for the overall success of the DEEP project.

One further positive evaluation was referred to the DEEP Consortium consisting of strategic partners with specific expertise in hemoglobinopathies and paediatric clinical trials design and managements, regulatory aspects and ethic issues. The complementarity has been well appreciated as regards to expertise and resources within DEEP Consortium and the balance achieved also with reference to geographical spread across the Mediterranean region with the highest incidence of thalassemias.

The report was concluded with a note regarding the dissemination activities and all Partners were inviting to publish the project results in peer reviewed papers.