The first issue of “Rare Diseases & Orphan Drugs” for 2013 is now published on Rare Disease Day. You can find in it all the information about the events that are taking place in Bulgaria on this occasion. Further, Dr. Manuel Posada, Director of the Institute for Rare Diseases Research in Madrid will present the rare diseases registries. Rare Diseases Library features one of the “common” rare diseases – Duchenne muscular dystrophy. You can also check the rare diseases events schedule for 2013, as well as to read more about the latest European project in rare diseases field – “Rare Diseases Best Practices”. Have nice minutes with “Rare Diseases & Orphan Drugs”.
The Organizers of the National Alliance of People with Rare Diseases are planning a series of events in Sandanski. An information stand in the city’s centre will be organised on 28 February. For more information, please visit the official website of NAPRD. For more information, please visit the official website of NAPRD.
The Organizers of the National Alliance of People with Rare Diseases are planning a series of events in Pleven. An information stand in the city’s centre will be organised on 28 February, which will be followed by a rare diseases training workshop for GPs. For more information, please visit the official website of NAPRD.
The Organizers of the National Alliance of People with Rare Diseases are planning a series of events in Stara Zagora. An information stand at the city ice rink will be organised on 2 February. On February 16 patients and medical students will hold the popular “Teddy Bear Hospital” which helps children get used to the doctors and medical treatments. A rare diseases round table discussion is scheduled for 28 February. For more information, please visit the official website of NAPRD.
The Organizers of the National Alliance of People with Rare Diseases are planning a series of events in Bugras. An information stand in the city’s centre will be organised on 28 February. For more information, please visit the official website of NAPRD.
The Organizers of the National Alliance of People with Rare Diseases are planning a series of events in Varna. On February 23 at 11 a.m. in the “Grand Mall” will be held the popular “Teddy Bear Hospital” which helps children get used to the doctors and medical treatments. From February 27 to March 1 will consist of handmade bazaar martenitsi and the funds raised will go toward the purchase of oxygen equipment for children with cystic fibrosis. On February 28 NAPRD have prepared a special challenge – creating the longest Martenitsa. On 2 March in the Faculty of Dentistry, Medical University – Varna will be held a seminar on rare diseases for GPs and medical students. For more information, please visit the official website of NAPRD.
Introducing and explaining rare diseases is a simple and complicated taks at the same time. It is easy in terms of statistics – a rare disease affects no more than 5 in 10 000 people in Europe. It sounds emotionless and reassuring because it seems like a distant threat that can not happen and therefore there is no need to think about this problem. Unfortunately, it is how the mass consciousness works.
But we should not blame and should not be mad at the people… because people… that is us. Each health issue deserves serious attention and understanding. Rare diseases require something more because of their specificity. Suddenly, out of the blue rare diseases come into people’s lives and from now on everything is different. Rare diseases mean everyday problems and challenges which people face all alone or only with the support of closest relatives. Since the medical science has no effective answers yet, the health system is not at all adapted and the society is committed to “more important” tasks.
Of course some people may ask, “Why rare diseases? Aren’t there more important issues to resolve?” Urgent problems will always exist but rare diseases have a very important nuance. It is the right and the reality to be different. From a genetic point of view, everyone has a unique combination of genes. Whether we will be tall or curly haired – it is not up to us, we are born this way and develop ourselves using what we have been primary given. Rare diseases occur in the same manner. Everyone is born with a certain number of “defective” genes that can not be changed. Whether at some point in life rare diseases will occur or not, no one can predict. But one thing is sure – no one is exempt from the possibility that it may happen to him/her.
Nevertheless, a person should not and can not be deprived of the most basic right – to be himself/herself, to dream, to seek and find happiness in life. Unfortunately, in Bulgaria the diagnosis of a rare disease is not only a stigma. It is an immediate end to the dreams of the affected and his/her family. This means missed talent and untapped potential both for the person and the society. It is reasonable to ask whether today everything has to rely on special and exceptional cases in order to have some positive changes, so people with rare diseases could receive equal opportunities and equal treatment like anyone else.
This year, on the 28th of February, people with rare diseases in Bulgaria will come together to mark again the Rare Disease Day. But it would be neither to remind all of us and the health system in particular how much we owe them. Nor to talk about the daily difficulties that they have to deal with. They would like to show that by virtue of chance, we are all different and have different personalities. Just like the nodes in the thread of the traditional martenitsa that people with rare diseases will bind on this day in Varna. Each node comes different and no two are alike. But in order to have a strong thread, all nodes must be tightly interconnected, no matter large or small, tight or loose, red or white thread. Ultimately we are all one thing and we can go forward only if we stand together and support each other.
Rare Disease Day would be marked on February 28 for a sixth time. The motto of the initiative this year is “Rare Diseases without Borders”. In Bulgaria, the organizers from the National Alliance of People with Rare Diseases will draw the public attention on the problems of rare diseases patients and on improving health care for rare diseases. A series of information, education and charity events will take place. On February 28 patients with rare diseases will fly balloons in front of the Ministry of Health in Sofia, followed by an official press conference. The Second Balkan Conference of Patients with Rare Diseases, entitled “Communication and Support to Patients, Based on Modern Technologies” will be held in April in Sofia. Besides Sofia, a series of rare diseases events will be organised throughout the county – Plovdiv, Varna, Burgas, Stara Zagora, Pleven and Sandanski.
For more information, please visit the official website of NAPRD (http://rare-bg.com/).
Rare Disease Day would be marked on February 28 for a sixth time. The motto of the initiative this year is “Rare Diseases without Borders”. In Bulgaria, the organizers from the National Alliance of People with Rare Diseases will draw the public attention on the problems of rare diseases patients and on improving health care for rare diseases. A series of events will be take place in Sofia. On February 28 patients with rare diseases will fly balloons in front of the Presidency Office. An official press conference will be later held at the Ministry of Health. On March 9 a seminar on rare diseases for GPs will be organized at the Alexandrovska University Hospital. The Second Balkan Conference of Patients with Rare Diseases, titled “Communication and support to patients, based on modern technologies” will be take place on March 29 to 31 March. For more information, please visit the official website of NAPRD.
The organizers from the National Alliance of People with Rare Diseases are planning a series of events in Plovdiv on the occasion of Rare Disease Day. Rare diseases information hotspot will be launched at St. George University Hospital on February 20. On February 28 at 11 a.m a charity bazaar for raising funds to purchase oxygen concentrators for patients with cystic fibrosis will take place at Mall “Gallery”, which will be followed by a charity concert. For more information, please visit the official website of NAPRD.
May you briefly introduce yourself to our readers? Edmund Jessop (EJ): My name is Edmund Jessop. I am medical adviser to the Advisory Group for National Specialised Services. Our team plans, funds, and monitors a set of services for very rare and highly specialised services provided by the National Health Service in England. Jacqueline Bowman (JB): I am the Executive Director of EPPOSI (European Platform for Patients’ Organisations, Science & Industry) which is a think tank active on addressing questions on health policies at a European level that aim to bridge the gap between innovations and improved health outcomes of citizens. We have been in existence since 1994 and now have 55 member organisations equally weighted between representatives from patients organisations, science, academia, research and various industry sectors (pharmaceutical, diagnostics), including Eurordis and EGAN as well as ESHG, all key actors within the rare diseases field in Europe.
First of all, is there a particular reason for you to be involved in rare diseases activities? When did you first “face” the rare diseases? EJ: I have been working in this field since 2002. I am involved because the work is both enjoyable and rewarding. It is enjoyable because all of the many clinicians and patient organisations I work with are enthusiasts who are dedicated and hard working. It is rewarding because many of the conditions we deal with are devastating in the their effect. Many are untreatable but over the years we have seen enough improvement in some diseases to give hope for everyone. JB: When EPPOSI started as an organisation, the main area of activity was rare diseases and EU legislation. Joining in 2010, I have been very keen to continue that tradition because there is still very much a clear need for different stakeholders to find solutions together. On a personal note, I am sickle cell trait, with low level symptoms of a sufferer. Various people in my family have died unnecessarily from this rare condition due to lack of awareness and access to medication. Anything that I can do to support finding solutions is very much welcomed.
HTA is already an internationally recognised field for specific activities and cooperation. In Bulgaria, however, this issue has been only recently discovered. What is the HTA added value for the health system and society in general? EJ: The National Health Service in England was one of the first to adopt health technology assessment systematically, by setting up the National Institute for Clinical Excellence (NICE). NICE has been portrayed in the press as an organisation which denies treatments for patients but its original aim was exactly the opposite – to ensure that payers did not, throughout ignorance, refuse funding for effective new treatments. In a time of economic difficulty some form of health technology appraisal is inevitable. Some treatments will be very expensive and achieve little; others looks expensive but actually bring years of added benefit to patients and so work out cheap You need to know that you are getting the best possible health gain from the money you spend. HTA answers two fundamental questions: what does this cost? And how much good does it do? JB: HTA is a multidisciplinary process that summarises information about the medical, social, economic and ethical issues related to the use of a health technology in a systematic, transparent, unbiased robust manner. It aims to inform the formulation of safe, effective, health policies that are patient-focused and seek to achieve best value. If HTA is correctly carried out it could encourage innovation; become a bridge between the all different stakeholders involved; optimise the use of healthcare resources; conduct efficient cost-effectiveness and clinical-effectiveness reports; draft efficient policy recommendations; maximise patient outcomes. In recent years, HTA processes have turned their focus beyond that of purely cost-effectiveness and strive for consideration of ethical, organizational, social issues and patient involvement, since patient defined outcomes are vital for HTA. Especially for rare diseases though, we need to ensure a transparent and close collaboration between all the stakeholders involved in order for HTA to be flexible and a wide societal perspective with patient needs at the core, which will provide equity of access to all patients with rare diseases. This will be the real added value of HTA.
You have a wide perspective on HTA organisation and methodology. What lessons could you recommend for a country in transition like Bulgaria? EJ: HTA is a powerful tool which helps to avoid erratic decision making. The basic concepts are easy to apply but a full HTA takes time and costs money; there are not many teams which can do it well. So choosing which drugs and treatment to submit to HTA is itself a decision. You need to decide whether to start with common conditions or rare, with existing treatments or new, with drugs only or all treatments. JB: Each HTA system depends on the setting in which the organisation operates, the existing funding, the types and scope of assessments conducted by the organizations, the activities other than the production of HTA reports and their relationship to decision-making. Bulgaria is in a very advantageous position because you are at the stage of being able to build an HTA system taking best practices from other European countries that have had to create through trial and error. You have the opportunity to take society’s views and needs into account when setting up the HTA system and not only looking at short terms gains for a very limited health system budget when only considering cost effectiveness. EPPOSI has been working on a framework for a more inclusive approach for HTA processes which will significantly benefit the rare disease community and society in general. According to the EPPOSI research and stakeholder consensus, a societal benefits approach to HTA means a process that involves principles of solidarity, transparency, equality and effectiveness, where the involvement of all stakeholders plays a crucial role and can be achieved by better targeted use of monetary and non-monetary resources across relevant policy sectors. The scope of societal benefits in HTA includes a clear ethical aspect that extends to the inclusion of workability and the quality of life of patients, families and care-givers in the framework.The main principles revolve around value, governance (solidarity, transparency, equality), all stakeholder involvement, stakeholder/patient-defined outcomes, psychological aspects, workability/continued economic activity, ethical aspects, cross-sectoral policy making. As we conduct a study ourselves centered on the societal benefits approach of HTA we have noticed that in many countries, their HTA system has a lack of ethical aspects or of the patient empowerment or transparent and consistent governance needed along with all stakeholder involvement. Our goal is to build a multi-stakeholder framework for a societal benefits approach to HTA, focusing on how to effect attitudinal as well as systemic change in HTA structures and processes, which can take better account of smaller, specific patient groups across Europe, as well as the needs of wider populations. Bulgaria, being a country in transition, could benefit from our societal benefits approach, since a lack of societal perspective, especially for rare diseases is the missing gap on the standard HTA procedures.
Talking about rare diseases and orphan drugs, what is the role of HTA in this sphere? EJ: Many orphan drugs are for cancer; HTA works well in this field. Difficulties arise when you want to use HTA for lifelong conditions, because you have to extrapolate results from 18 months of treatment in a trial out to a lifetime of 10, 20 or 30 years. Furthermore you have to extrapolate from measures of function (such as the 6-minute walk test) to expected survival and to quality of life. Those extrapolations are very imprecise and so the whole HTA becomes imprecise. It is also true that for very rare or ‘ultra rare’ disease (with a prevalence of 1 in 100 000 or fewer)’ the treatments tend to be very expensive. This is not a limitation of the HTA but it does pose problems for decision makers. In the UK we have separate decision systems for ultra rare conditions. The HTA is the same, but the funding decision is made using a different set of criteria. JB: Standard HTA procedures evaluate cost-effectiveness and clinical effectiveness. However, rare diseases are not the standard HTA subject for evaluation. Rare diseases usually do not have a comparator because no alternative exists and moreover, the evidence for orphan medicines is very limited. Furthermore, patients of rare diseases represent a very small percentage and orphan drugs are too expensive to meet the standard cost effectiveness threshold. On all these grounds, conventional HTA methodologies risk denying patients access to potentially life-saving orphan drugs. Therefore, HTA bodies need to broaden the range of criteria they consider in their assessments if these patients are to avoid being left behind. If we look at the AGNSS case, it is an interesting example of rare diseases and orphan drugs HTA and we could learn lessons from the MCDA (multi-criteria-decision-analysis) approach used, since it covers a wide societal perspective. AGNSS is the Advisory Group for National Specialised Services. It offers a new HTA methodology for Ultra orphan drugs and provides a single source of advice to Ministers on which services at which centres should be nationally commissioned, as well as a small number of highly specialised new drugs and technologies that are not suitable for consideration by NICE. MCDA in HTA is an analytical framework that systematically considers additional criteria beyond cost effectiveness, such as societal preferences, equity and benefits to caregivers, disease rarity and severity, availability of alternative health technologies, impact of drug on disease, single or multiple indications, clinical evidence, and manufacturing complexity. This method avoids the use of QALYs-which is unsuitable for rare diseases due to their high cost and lack of alternative treatments-, it allows flexibility, it focuses on the patient need and patient empowerment. It provides all stakeholder involvement, provides support to patients and their caregivers and allows further data collection, since data for rare diseases and orphan drugs is difficult to find or generate.
What’s your message to “Rare Diseases & Orphan Drugs” readers? EJ: HTA is here to stay so you need to understand how it works. It does have some limitations but be clear what those limitations are. And separate the analysis – HTA – from the decision. JB: I see an ever growing concern for rare diseases from all over EU and new stakeholders are getting involved. This is very important, because the most essential factor is to have a stable and favourable policy and regulatory framework to incentivise development and patient access to orphan drugs. Also HTA is very useful and if we modify it in order to capture the value of rare diseases and orphan drugs, it could be a helpful tool for decision-making. The important aspect is for all stakeholders involved in HTA and decision-making to realise that rare diseases are a special category and if the HTA methodology is conducted in such a way, for instance MCDA, it would benefit patients with rare diseases. As mentioned before, MCDA reflects a more holistic and societal approach to HTA of rare diseases, which is able to capture not only the cost-effectiveness and clinical-effectiveness, but also the ethical and psychological aspects, patient-defined outcomes, transparent cross-sectoral policy, equal distribution and accessibility of treatment for all patients of rare diseases.