Doing what it ’TAIEX’ to implement Orphanet in Turkey
In early July, a workshop was held in Ankara, Turkey, for the Technical Assistance and Information Exchange Instrument (TAIEX) of the Institution Building unit of Directorate-General Enlargement of the European Commission. Its aim is to provide to the new Member States, acceding countries, candidate countries, and the administrations of the Western Balkans, short-term technical assistance in line with the overall policy objectives of the European Commission, and in the field of approximation, application and enforcement of EU legislation. Assistance is also provided to those countries included in the EU’s European Neighbourhood Policy, as well as Russia. The workshop had two main objectives. The first sought to gain knowledge on ways to establish an Internet website for Orphanet Turkey in the country’s national language, through which all users - patients and the various professionals - are able to access information on rare diseases. The second objective was to gather a specific scientific advisory board on a regulatory platform, which will collaborate with Orphanet Turkey on issues regarding data provided to Orphanet within the country, and form a consortium of experts within the Turkish Ministry of Health, who shall follow-up with data collection and maintain quality control of current/emerging rare diseases within the country.
The workshop took place at the Refik Saydam Hygiene Center of the Turkish ministry of health and gathered over 60 participants from various departments of the Ministry, academia, patient organisations and the biopharmaceutical industry. The two days were dedicated to investigating the current status of rare diseases and orphan drugs in Europe and discussing how Turkey could benefit from past experience to move forward in policy shaping for rare diseases and orphan drugs. Dr Ségolène Aymé and Dr Laura Fregonese presented relevant public health issues while Pr Maurizio Clementi reported the EMEA experience with the designation of orphan drugs. Dr Krystyna Chrzanowska (Poland) introduced the audience to the network activities of Dyscerne, followed by Dr Rumen Stefanov (Bulgaria), reporting his experience both with a national information centre answering questions from patients and from professionals, and with the establishment of a national plan. Mrs Güliz Karcaba, director of Actelion Turkey, presented the difficulties faced by Industry to register a new drug in Turkey, in the absence of an orphan drug regulation. The main identified hurdle is the lack of awareness on the part of regulators. Currently seven orphan drugs are available in the country. The final portion of the meeting was chaired by the Orphanet Turkey team, Pr. Ugur Ozbek, Dr Fatma Atalar, and Dr.Tufan Acuner, who presented the challenges they face in collecting information, due to the lack of national support for their activities. The best way to position Orphanet in the country was discussed extensively. Consensus centred on an official endorsement of the activity by the ministry of health and a formal contract between the Orphanet team in Istanbul and the ministry, an approach very similar to the arrangement in France, where Orphanet was first established twelve years ago. The participants expressed a strong wish for an action plan in the field of rare diseases and orphan drugs. A national workshop to continue discussions is being planned for October.
Inherited cardiovascular conditions (ICCs) are a group of over 50 identified monogenic disorders primarily affecting the heart, conducting system or vasculature. ICCs include familial hypercholesterolaemia, arrhythmia syndromes (long-QT syndrome, short-QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia); cardiomyopathies (caused mainly by mutations in the proteins making up the contractile system of the myofibrils), including hypertrophic and dilated cardiomyopathies; inherited arteriopathies which cause catastrophic rupture of the blood vessels (Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes); and muscular dystrophies (Emery-Dreifuss muscular dystrophy and myotonic dystrophy). Frequently identified upon the event of sudden death, the diagnosis of an ICC disease has implications for the subject’s relatives, who may also be at risk. An expert working group comprised of cardiologists, geneticists, service commissioners, and representatives from key charities, including the British Heart Foundation, Cardiac Risk in the Young, Cardiomyopathy Association, Marfan Association UK, and the Sudden Arrhythmic Death Syndromes, has released a sweeping review, funded and produced by the PHG Foundation, of the status of ICCs and the services available for these conditions across the United Kingdom. Identifying areas in need of improvement, the document, entitled Heart to Heart: Inherited Cardiovascular Conditions Services. A Needs Assessment and Service Review also considers emerging technologies in the field and examines the key changes that would facilitate optimum diagnostic and management services for patients and their families. The survey found inequalities across the UK, with some areas having a much higher concentration of expertise than others. The report proposes that a specialised service for ICCs must be able to “cater for the full range of conditions in both adults and children in a timely fashion; it should include cardiologists, geneticists and expert nurses, along with access to the latest laboratory and pathology services and other key investigations such as imaging, electrophysiology and exercise testing. Integration of these different elements to provide a genuinely multidisciplinary specialist service is critical, as is increased awareness of this service among wider health professionals such as GPs. Bereavement help, counselling and integration of services with voluntary organisations that provide support for families are also essential elements”. The report is divided into ten chapters, focusing on, Science, epidemiology and clinical management; The policy context; The patients’ perspective; Comparative survey of ICC services; What makes a specialist service?; Ethical and legal issues; Horizon scanning: and New technological developments and their potential impact on services. The report concludes with a set of 16 recommendations based on the findings of the survey. These are grouped into the general topics of Establishing a strategy, Commissioning, Education, Enhancing and monitoring the effectiveness and efficiency of services, and Translational research. Referring specifically to services in the UK, the Heart to Heart report and its recommendations nonetheless offers useful and relevant insight to any country developing or refining specialised services for the inherited cardiovascular conditions. 
A workshop was held in June in Rome, Italy, that aimed to promote the knowledge of narrative medicine as a functional tool in the management of patients with rare diseases. Rare diseases are difficult to diagnose and often not treatable. Patients and their families may have a perception of intense isolation, as well as a sense of powerlessness that is shared by the medical and health professionals treating the rare disease patient. Narrative medicine aims to fill the gap between the physician’s bedside clinical knowledge and the patient’s subjective experience. It is a tool that consists of different elements taken from a number of approaches and techniques. The workshop thus presented different perspectives and methodologies in the field of narrative medicine via invited lectures, plenary sessions and a poster session mainly devoted to practical experience. Topics covered narrative medicine in general practice, in paediatrics, in education and in bioethics, and in the framework of rare diseases.
