SYNONIMS: –
ICD10 code: Q75.0
ORPHANET number: ORPHA1531
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website
SYNONIMS: –
ICD10 code: Q75.0
ORPHANET number: ORPHA1531
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website
SYNONIMS: Deletion 11p
ICD10 code: Q13.1
ORPHANET number: ORPHA77
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website
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Last modification: 20:18 28.08.2010
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Would you like to introduce yourself to the readers of “Rare Diseases & Orphan Drugs”?
Vania Dobreva (VD): I am Vania Dobreva, President of “Pituitary” Association.
Violeta Yotova (VY): My name is Violeta Yotova and I am fromVarna. I graduated with honors in medicine in 1988 and since 1991 I have been woriking at “St. Marina” University Hospital and the Medical University of Varna. I am a specialist in pediatrics, pediatric endocrinology and metabolic diseases. I have been Associate Professor since 2007. My PhD degree research was focused on postnatal growth and later disease risks in children born small for gestational age. I continue researching in this area today along with my younger associates. I have over 700 citations in foreign literature and I am well known internationally in my professional field. From the very beginning of my career I try to help people with rare diseases – every rare disease patient is a unique universe and is lost if someone does not show special interest in him/her. Recently, there are more and more discussions about the “individualised” or “personalised” medicine. Indeed, there is no more individualised health care than that one provided to people with “unconventional” diagnoses.
Rumen Stefanov (RS): I am Rumen Stefanov, Professor of public health and Dean of the Faculty of Public Health at the Medical University of Plovdiv. Director of the Rare Diseases Centre in Plovdiv.
What is the reason for not having yet formally established centres of expertise for rare diseases in Bulgaria?
VD: There is no adequate legal basis. Although there is a definition of centres of expertise in the National programme for rare diseases, it has to be regulated how these centres will work and who will finance their activities. Though not officially designated, there are currently well-functioning rare diseases centres of expertise. A very good example is the Centre for acromegaly at “Acad. Ivan Penchev” University Endocrinology Hospital, led by Professor Sabina Zaharieva. There we, the patients are followed up by highly trained medical professionals who have interned abroad and participated in international projects. Working in the only acromegaly centre in the country, physicians have succeeded to gain experience with many rare diseases patients. Patients could be also consulted by other profile physicians. The centre has also created a registry of patients with acromegaly, implemented by specially designed software. The centre works closely with the Neurosurgery Clinic at “St. Ivan Rilski” University Hospital, patients could undergo surgical treatment. The clinic has a laboratory certified for hormonal analysis. A project of our patient organisation is currently being prepared that will ensure a clinic psychologist, helping the patients to deal with the chronic disease and to adapt to the accompanying changes. I would like to take this opportunity to thank Prof. Zaharieva for everything she and her team are doing for us! Unfortunately, despite having many positive aspects, this model shows some shortcomings, which we hope will be cleared in near future. There are patients who are not covered by the work of the existing acromegaly centre, possibly because of economic reasons. Although this rare condition can not be followed up, nor adequately treated outside the acromegaly centre, many different clinics in the country and in Sofia periodically hospitalise such patients without sending them to the acromegaly specialised center. Also, this centralised scheme deprives the doctors from other hospitals to meet these patients and actually quite a lot of medical students and doctors have never seen a patient with acromegaly, which in our opinion reduces the opportunities for early diagnosis of the disease. I believe the proper regulation of the centres of expertise will find a solution to the existing problems.
VY: Sincerely, I think there are three main reasons. Firstly, the needs for additional funding, coming from the very limited health care resources and the many unresolved problems of the “frequent” diseases. Secondly, the competition for being “the best expert” and “leader” by the medical professionals. And finally, the lack of assessment of the effects of any kind of public health programme or strategy and the absence of responsibility, apart from the individual conscience for success or failure.
RS: I believe the reasons for this are two – the stopped health care reform and, on the other hand – the failure to implement the National Programme for Rare Diseases. Regarding the first reason – the highly advertised health care reform actually stopped 2-3 years after its start in 2000. Since then the health system is left without a clear strategy for development with numerous inconsistencies and contradictions between different laws and regulations. It is a curious and absurd situation in which, under the Health Insurance Act our health care system is funded by health insurances, but in practice is supported by the state budget. The lack of adequate senior management in the Ministry of Health during the years of reform has open doors for the passage of various lobbies, further fragmentation and differentiation of the system and has led to tensions and conflicts between different medical specialties and between physicians and patients. Problems were accumulated in absolutely all sectors of the health care system, which have affected all of us. The National programme for rare diseases failed to be implemented due to the shift in its objective – from adaptation of the health system to the needs of patients with rare diseases – to the purchase of consumables and reagents for genetic testing and screening, activities that generally should be financed and controlled by the National Health Insurance Fund.
From your perspective, what are the most important criteria to be met by a centre of expertise for rare diseases?
VD: The criteria to be met by rare diseases centres of expertise are 16 according to the recommendations of EUCERD. I think the main criteria must be: (1)the centre should have rare disease-profiled specialists, including an interdisciplinary team; (2) the centre should have the ability to follow up patients by dispensary observation (I consider the manner of work of the oncological dispensaries to be particularly appropriate for the rare diseases expert centres too – patients have free access to examination by a specialist), and by hospitalisation when necessary; (3)the centre should have the necessary equipment and laboratory to diagnose, follow up and treat rare diseases; (4)the centre should be obliged to advice to doctors from other hospitals (like the model of national consultants) and to work in collaboration with other centres of expertise in the country.
VY: Although there are no generally accepted criteria in Bulgaria, the experience has shown that centres of expertise are best created and operated by medical professionals who are interested, have previously developed similar activity and are experts in a rare disease or a group of rare diseases. It is because of the low prevalence of particular rare diseases that these centres can not be “multi-disease” or “multi-valent”, etc. After identifying the teams of specialists with expertise in a given group of rare diseases (or even in a single rare disease), a predermined procedure for designation should take place, accompanied by a additional funding for a period of time and more important – a periodic assessment of activities and an option for deprivation of this status in case of unpersuasive results.
RS: The criteria for designating centres of expertise for rare diseases were discussed and proposed in 2006 by the Task Force on Rare Diseases to the European Commission. Last year, the EU Committee of Experts on Rare Diseases (EUCERD) published recommendations on quality criteria for centres of expertise on rare diseases. I think in Bulgaria we should accept all the criteria of the recommendation of EUCERD and try as quickly as possible to identify and make visible all the clinical departments in the country, which “by reputation” are specialised in diagnosis, treatment or rehabilitation of a particular rare disease or a group of rare diseases.
How the multidisciplinarity of these centres should be realised in practise?
VD: Besides profile specialists, patients should be consulted by doctors from other specialties, knowing their underlying disease and its complications. For rare specific disorders and cases rehabilitation specialist must be provided as well.
VY: It seems to me that most commonly multidisciplinarity is perceived as a group of professionals with different expertise, who are able to cope with different rare diseases. I think multidisciplinarity should be more expressed as an ability of the centre to attract different medical professionals who can deal with the various aspects of these diseases. For example, it would be more useful to have a centre of sexual differentiation disorders, which in its turn to attract more and more competent specialists (surgeons, psychologists, sexologists, cardiologists, orthopedists, etc.) on functional principle rather than an expert centre, which works on many diseases, but has only 1-2 competent professionals. The capacity to attract established professionals for particular needs, including cross-border experts, is very important for the quality health care for people with rare diseases. In addition to the effect of much better and more adequate health care, the service will be much cheaper and effective. In this way we will also respect the advanced, more humane and more cost-effective principle of treating patients on site and “travelling” expertise.
RS: A multidisciplinary approach to rare diseases is essential in all phases of clinical management – from diagnosis and treatment to the physical and social rehabilitation of the patient. This is determined by the specificity of rare diseases and the frequent simultaneous affecting of several organs and systems. Thus, future centres of expertise for rare diseases should focus on collaboration and teamwork of all medical and non-medical professionals, which are required by a particular rare disease.
In this context, how the centres of expertise should be differentiated – by medical specialty, by specific rare disease/group of rare diseases, for children and/or adults, by territory?
VD: In Sofia, centres of expertise could be organised for a specific rare disease or group of rare diseases, because the majority of patients in Bulgaria are there, the medial specialists are also concentrated in Sofia, many clinical departments already operate as such centers, albeit not officially designated. In Varna we are happy that the project for a rare diseases centre of expertise is being run by two amazing professionals – Assoc. Prof. Yotova and Assoc. Prof. Kaleva. Maybe outside the capital, because of the smaller number of patients it is better to do this in joint centers for children and adults. It is necessary to include in each centre a person, coordinating the work with other centres of expertise, so that physicians from centre’s area can contact him/her for information and to be directed to a particular centre or specialist. Centres of expertise may also advise and train medical professionals and consult professionals from other centres of expertise.
VY: I think that I have already partially answered this question. Best differentiation is by disease (group of diseases), that means by medical competence and through call of proposals for centres of expertise. It is possible to have more than one centre of expertise for “more frequent” rare diseases (e.g., cystic fibrosis), but at least one must be officially recognised as a national reference centre (so, it would be a second opinion centre for others). Unfortunately, although Bulgaria is a small-area country, the poverty of much of the population and especially the deficit of resources in the health care system do not allow many people to reach adequate health care. So, the territorial criterion is also important in terms of minimising travel and stay costs. However, I do not understand how a country likeBulgaria can have two expert centres for diagnosis and treatment of Gaucher disease for example as it is both financially and organisationally impossible. That is why entire neighbour countries cooperate for the creation of expert centres for ultra rare diseases.
RS: The first step is to identify the available medical professionals and clinical units which are specialised for the diagnosis, treatment or rehabilitation of a specific rare disease or a group of rare diseases. In the beginning, the creation of entirely new centres of expertise is not justified, as they will probably remain outside the health system, can not be funded and operate normally. Do not forget that no country in Europe is able to ensure centres of expertise for all rare diseases due to the lack of qualified medical professionals. So, the new Directive on cross-border healthcare should help, by guaranteeing access for a patient with a rare disease to the nearest centre of expertise for his/her disorder in the EU, if there is not such one in the country of residence.
How should monitor and evaluate the work of these centers?
VD: We should establish criteria, based on the recommendations of EUCERD. But we must avoid difficult bureaucratic procedures, which would put unnecessary strain on the professionals. Once we have approved European standards for treatment of rare diseases, the quality of care for patients with rare diseases should be monitored and evaluated in the same way as that one of the other patients.
VY: By annual reports and a final report at the end of the designation period. These reports show be organised upon predefined criteria, including financial, should be publicly available to all expert centres. The centres’ activities have to be evaluated by a special public body of various stakeholders (medical professionals, students, national and local authorities, directors of hospitals, rectors of universities, patient organisations, media, financial institutions, etc.), the evaluation report should be also publicly available. That’s the only way to ensure maximum relevance of the assessment and to avoid the so characteristic of our region interpersonal relationships.
RS: Control and evaluation in healthcare is a difficult and still unsolved problem. A very important factor would be the source of funding for the future activities of the centres of expertise – state budget (MoH), public fund (NHIF) and/or European funding (EU). In any case, despite the reluctance of the European Commission to intervene in the healthcare policy of the Member States, I believe it is appropriate to create a European Agency for rare diseases, which would coordinate, supervise and ensure the quality of the activities of the centres of expertise on rare diseases in the EU.
Centres of expertise are the main theme of the Third National Conference for Rare Diseases and Orphan Drugs in September. What would you like to learn during this event?
VD: I expect to discuss the possibilities for regulating the centres of expertise on rare diseases during this meeting together with other medical professionals, representatives of MoH, NHIF, MoLSP, patients. There should be prepared proposals on what their status would be (in my opinion the best option is to regulated them as clinics within the university and other hospitals), how they should work (dispensary observation like the one in the existing oncological centres with opportunities for hospitalization if necessary) and be funded. Last but not least, once you lay down these centres, patients should be entitled for financial assistance from the Agency for social support. Their travel (and accommodation if hospitalisation not needed) costs should be reimbursed after submitting supporting documents.
VY: It would be great if the conference demonstrate the experience of countries with similar health culture, population and financial characteristics such as ours, but which have already started and established rare diseases centres of expertise. It is also important to use the competence and seek cooperation with advanced centres of expertise from other countries. Such centres are very often ready to help us in getting timely diagnosis and undergoing treatment, because they need a larger number of patients in order to maintain their own professional competence and expertise. Another important aspect to think about is the Bulgarian medical professionals’ awareness and knowledge of the process of research, discovery, authorisation, registration and schemes of use of orphan drugs. It would be very useful if the conference at least partially address these issues, as they may be part of the future activities of the expert centres. Finally, it is imperative to discuss mechanisms for registration and import of drugs that are not orphan, but are actually used by small groups of patients and because of economic reasons they are not available inBulgaria. The access of the patients and their families to these drugs is sometimes a nightmare. That organisational burden should not be taken by them.
RS: I hope that during the National Conference we could discuss the methodology for identifying and designating rare diseases centres of expertise in Bulgaria. It is important to consider the necessary legislative initiatives (eg., Ministerial ordinance on centres of expertise for rare diseases) in order to provide the needed funding, control and sustainable development of these institutions.
Finally, what is your message to our readers?
VD: I strongly believe that together – doctors and patients are able to create a better future!
VY: To the patients – take care for high standards to your own health, future, and health care that you could need, regardless of the specific economic or social situation. Fight for the sustainability of the system of service because lack of clear vision and frequent changes lower the quality, despite resources being increased. To the fellow medical colleagues – keep the love of your profession and learn to look more positively on your own achievements. Although more difficult these days, it is necessary to continue enlarging and improving the provision of health care. Ultimately, the physician’s most important task is to seek the best possible outcome for the patient, no matter if the health system is rich or poor.
RS: I wish the readers to have good health and to be more active and critical to what is happening in the health system as it concerns each of us.
The Italian National Institute of Health will organise the EUROPLAN 2012-2015 inception workshop on national planning for rare diseases. The event will be held on 10-11 September 2012 in Rome, Italy. The main object of the workshop is to discuss among the participants the strengths and weaknesses in developing national plans and strategies on rare diseases. For more information, please, visit EUROPLAN website.
An International Workshop “Rare Diseases and Orphan Drug Registries” will take place on 8-9 October 2012 in Rome, Italy. The event is being organized in the framework of the EPIRARE Project (co-funded by the European Commission). The workshop is open to scientists, clinicians, patient and parent associations, policy makers and enterprises. It will consist of oral presentations, posters and focus group sessions. Abstracts are welcome on any subject and experience useful to inform and support the debate regarding the main aims of the workshop. For further information, please, visit EPIRARE website.
May you briefly introduce yourself to our readers?
Alastair Kent (AK): I am the Director of Genetic Alliance UK. This is an Alliance of over 150 patient Support organizations for families and individuals affected by all types of genetic disorder. Our members include some very large groups supporting patients with cancer of heart disease, where genetic factors are only part of the story, and a lot of very small groups helping those with rare conditions arising from changes in a single gene.
Antoni Montserrat (AM): I’m Antoni Montserrat Moliner, born inBarcelona. From 2006 I’m in charge of the coordination of the European Commission action in the field of rare diseases. My Unit is part of the Directorate of Public Health of the SANCO (General Directorate of Health and Consumers) of the European Commission. We are located in Luxembourg. My background is on Economy and Statistics applied to health information systems.
Domenica Taruscio (DT): I am Domenica Taruscio, Director of the Italian National Centre for Rare Diseases at the Italian National Institute of Health. The Centre is dedicated to tackle rare diseases from primary prevention to surveillance, to research on mechanisms of specific rare diseases as well as on social issues, education of health operators, empowerment of patients, information to patients and the general public.
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 topics?
AK: I have been in this role for about 20 years. I joined Genetic Alliance UK because I was interested in the way in which new scientific possibilities influenced our opportunities to improve the circumstances of people living with serious, chronic and life limiting conditions. My younger daughter has a treatable auto-immune disease so we have family experience of the importance of bio-medical research and the translation of the outcomes of this into effective products. Rare diseases have been a constant thread in this work. When I started, medical genetics was all about rare conditions. Today, advances in research are showing us that common conditions – at least on the surface – are really clusters of rare disorders underneath with sometimes very different genetic elements that require different interventions and therapies. Perhaps there will not be common diseases for much longer as they break up into clusters of genetically distinct subsets!
AM: I have a personal motivation. I face for the first time topics to mortality and morbidity related to rare diseases in 2001 when I was responsible in Eurostat on some areas of health statistics. When I take new responsibilities in DG SANCO in 2003, rare diseases were a secondary topic but very quick it becomes a major topic in the activities of the European Commission in the field of public health.
DM: In 1998 I have been invited, as scientist working at the Italian National Institute of Health by the Italian Minister of Health to participate to a meeting organized between patients and families with rare diseases, scientists and health authorities.
You have been a longtime actor in rare diseases field. What has changed now on European level in comparison to when you started working on these problems?
AK: I think the most significant change is the growing recognition that rare is not the same as uncommon, and that there is a need to address the issues generated by the impact of rare diseases strategically and on a public health basis rather than as a series of individual tragedies that, whilst distressing to the patient affected are too few to get the attention of planners and policy makers.
AM: The first European initiative in the field of rare diseases was the Decision No 1295/1999/EC of the European Parliament and of the Council adopting a programme of Community action on rare diseases within the framework for action in the field of public health (1999 to 2003). This was not a real programme of action but a funding instrument giving to the different stakeholders the first opportunity to create EU collaborations and networks (the database Orphanet constitutes the best example). In 2000 the Commission adopted the Regulation (EC) No 141/2000 of the European Parliament and of the Council on orphan medicinal products which introduced for the first time a European definition on rare diseases, any disease having a prevalence of less than 5 per 10 000 of population, but obviously focusing on incentives to pharma companies to research and develop drugs not having economic return. At the same time the Framework Programme on research, FP5, launched also initiatives on rare diseases research very significant in terms of impact. During these years before 1999 still end 2003 the different actions of the EU lacked of a public health orientation and appropriate coordination. Things started to change in 2004 after adoption of the First European Public Health Programme (2003-2007) and the Sixth Framework Programme (2003-2007). Rare diseases become a strategical objective in the EU public health and research policies and consultative structures, at EU level, were created for the first time. The EU Task Force on Rare Diseases was created in 2004 and has given a significant input to the EU in terms of impulse and help to refine European cooperation in the field of rare diseases. In 2008 the European Commission decided to adopt the Commission Communication to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe’s challenges and to propose to the Council the adoption, finally done in 2009, of the Council Recommendation on an action in the field of rare diseases. After adoption of both documents the EU had, finally, a coherent framework of activities shared by the European Commission and the Member States. The adoption of the Commission Decision of 30th November 2009, establishing a European Union Committee of Experts on Rare Diseases, permitted to create a large structure where al the stakeholders (Member States, Patient’s organisations, Industry, Research community, Public Health projects, etc.) are represented. Also the fact that the most part of recent legal initiatives in the EU in the field of public health takes into account explicitly the interest of the rare diseases patients becomes an excellent new (e.g. Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients’ rights in cross-border healthcare, etc.).
DM: It has changed a lot in terms of EU public health actions as well as in research. Since 2008 rare diseases are a priority area for action in Public Health Programmes. Considering rare diseases as a whole, and not singularly, helped highlighting and recognizing a series of healthcare problems and planning focused public health actions involving groups of population with common needs, safeguarding at the same time their peculiarities and differences. Communication of the European Commission “Rare Diseases: Europe’s challenge” and “Council Recommendation on a European action in the field of rare diseases” allowed common policy guidelines to be shared everywhere in Europe. The adoption of the Commission Communication (2008), and of the Council Recommendation (2009), and the Directive on Cross-border healthcare have created an operational framework to act in the field of rare disease with European coordination in several areas (national plans o strategies, classification and codification, European Reference Networks, orphan drugs, European Committee of Experts, etc.). Many Countries adopted actions to tackle rare diseases in order to improve prevention, early diagnosis and appropriate treatments. In the field of research the EU Commission has launched many initiatives starting with the different Framework programs (FP) where many projects on rare diseases have been funded to last international initiative the International Rare Diseases Research Consortium (IRDiRC). Maximising scarce resources and coordinating research efforts are key elements for success in the rare diseases field. Worldwide sharing of information, data and samples to boost research is currently hampered by the absence of an exhaustive rare disease classification, standard terms of reference and common ontologies, as well as harmonized regulatory requirements. In conclusion, it is no doubt that EU integration and cohesion policies have greatly contributed to make rare diseases issues more visible and more comprehensible throughout Europe.
What are you most satisfied of the recent advances in this area?
AK: Advances have occurred in several areas. Firstly, advances in our understanding of the basic biology of a growing number of rare diseases are creating insights that will allow us to make progress towards interventions and treatments that will improve the control of symptoms and perhaps one day allow us to produce cures or to prevent these conditions from developing. The second area of improvement has been in the adoption of legislation that helps to create a framework for sustaining research and development and generating specialist knowledge in the care and support needed by patients and families. For example, the Orphan Medicinal Products Regulations have provided a huge stimulus to the development of treatments for rare diseases, and the recently adopted Cross Border Health Care Directive should (it’s early days yet) support the development of centres of expertise with the critical mass to really improve services and support for families. This directive ought to facilitate the movement of patients to centres where they can receive high quality treatment not available closer to home. Whether it does remains to be seen, and patient groups will need to be vigilant to secure the rights of their members to access this high quality support if national health care systems are reluctant to pay for it.
AM: The situation has certainly changed very positively from 2004 and specially 2008. I think everybody should be proud about the enormous advances in the visibility and knowledge of rare diseases in the EU policy. I’m specially satisfied with the consolidation of the database Orphanet as the rare diseases world reference in the field, the increasing role that the EU policy has given to patient’s organisations, and specially EURORDIS, as key players in the EU policy, the recommendation to Member States to adopt a national plan on rare diseases before the end of 2013 and with the legal definition in the EU Cross-border healthcare Directive of the need to create European Reference Networks.
DT: All the initiatives described above have been very important although with different weight.
Rare diseases are a unique sphere where European cooperation and consensus are crucial to move things forward. What’s the way to find an effective balance between the interests of so many different groups of interactors?
AK: I think that the key to success is to try and adopt a collaborative approach with other key stakeholders. Patient groups have a unique role in promoting the interests of their members, and we must not allow this purpose to be compromised. However working with others who have overlapping interests, be they doctors, researchers, industry, policy makers or whoever, to help them understand that, by meeting patient expectations they will be able to do a better job themselves will enable us to lever their resources and insights towards the pursuit of a common goal. Of course we must reserve the right to be confrontational when others are doing things that run counter to patients’ interests, but confrontation should be a last resort, not the first tool out of the box.
AM: The specificities of rare diseases – limited number of patients and scarcity of relevant knowledge and expertise – single them out as a unique domain of very high European added-value. There is probably no other area in health where collaboration between 27 different national approaches can be as efficient and effective. Coordination at EU level is probably the best way of pooling the very limited resources available. However no EU policy on rare diseases is possible without an active cooperation with national authorities and stakeholders. This was the sense of the creation of the European Union Committee of Experts on Rare Diseases (EUCERD). This Committee will assist the Commission in formulating and implementing the Community’s activities in the field of rare diseases, and shall foster exchanges of relevant experience, policies and practices between the Member States and the various parties involved as well as to assist the Commission in the monitoring, evaluating and disseminating the results of measures taken at Community and national level in the field of rare diseases. It should also contribute to the implementation of Community actions in the field, in particular by analysing the results and suggesting improvements to the measures taken and deliver opinions, recommendations or submit reports to the Commission either at the latter’s request or on its own initiative.
DT: We should always keep in mind that the benefit of patients and their families are the central core of initiatives and efforts made by Institutions, patient organizations, scientists, industries, etc. at EU and national level. Transparency, especially regarding funding, among different players should be ensured.
People do not always understand the difference between the EU level approach to rare diseases issues and the specific actions, taken by the individual countries. How EU policy decisions should be transferred into national authorities’ actions, so we could have better results?
AK: In my experience a twin track approach is often the best way forward, and an early start helps to prepare the ground. When EU approaches are under development those who will be responsible for implementing them at national level need to be engaged with at as early a stage in the process to discuss what the implications might be and how the benefits might be realized. Practical and realistic options based on the opportunities on the ground in the Member State need to be worked out, remembering that what works in one country may not in another. Enlist the support of key allies – clinicians and others will want to take advantage of opportunities to help their patients, but they can only do this if they know about them, and try and secure a seat at the tables where decisions are being made. At the same time, it is important to work on awareness amongst politicians and the wider community by advocacy on behalf of patients in Parliament and in the policy forums where legislation is laid down that will transpose EU initiatives into national law, and through intelligent use of the media to generate public support that can be translated into political pressure thereby making a positive outcome more likely.
AM: As mentioned before, Member States should adopt a national plan or strategy in the field of rare diseases before the end of 2013. The content of these national plans/strategies should have a double dimension. From one side a National Plan or Strategy can be defined (EUROPLAN Definition) as a set of integrated and comprehensive health and social policy actions for rare diseases (with a previous analysis of needs and resources), to be developed and implemented at national level, and characterised by identified objectives to be achieved within a specified timeframe. On the other the content of these national plans/strategies should include and implement the EU recommendations and should define the international and European operation as a regular and normal way to proceed in order to obtain sustainability, efficiency and appropriate use of resources.
DT: Increasing the debate with national governmental institutions. In this respect EUCERD has an important role, especially through the active participation of national members.
What’s the added value at-large of the EU funded projects and initiatives, such as EUROPLAN, EPIRARE, RD Portal, etc.?
AK: These projects help to create a critical mass of shared experience and expertise that maximize the chances of making progress together and reduce the chances of people re-inventing the wheel and wasting scarce resources in the process.
AM: To improve information, identification and knowledge on rare diseases in order to obtain better diagnosis and treatment cannot be done, in any field, by a single Member State. The projects you pointed out are a clear example of international cooperation in fields in whit a high European added value has been obtained in describing and promoting high quality information on available services and actions as well in creating an international cooperation to improve classification and codification of rare diseases (Orphanet), in promoting synergies and common quality criteria for rare diseases registration (EPIRARE) or to provide technical assistance and recommendations to establish national plans/strategies for rare diseases (EUROPLAN). In all the cases there are achievements impossible to obtain o a single and isolated national action.
DT: The added value of EU funded projects and initiatives is enormous. Let me just give you few examples of my own experience.
EUROPLAN is to promote and implement National Plans or Strategies to tackle rare diseases, to share relevant experiences within Countries, linking national efforts with a common strategy at European level. This “double-level” approach ensures that progress is globally coherent and follows common orientations throughout Europe. EUROPLAN I has elaborated agreed tools for the development and implementation of National Plans following the Council Recommendation. Its contuniation, EUROPLAN II, is to establish an international and interactive network of stakeholders (mainly policy makers) to speed up the elaboration and the implementation of Rare Diseases National Plans, trough scientific and technical assistance, and the active participation of patients. EUROPLAN has really increased the capacity building of participants, has supported Countries with different geographical and economical concerns and different states of readiness for plan delivery by sharing experiences, disseminating successful practices. Finally, it has also identified feasible EUROPLAN indicators to monitor progress of different rare diseases activities.
EPIRARE is a project, motivated by the increasing interest of researchers in the establishment of disease registries. The need for shared quality data collections for different health and healthcare purposes and the awareness of difficulties posed by their maintenance is witnessed by a number of recent documents. The recent adoption of the Council Recommendation on RDs, which recommends the development of registers and databases for epidemiological purposes, is expected to result in a burst of initiatives for RD registration. While a wide population base is especially needed for epidemiological and clinical research in RDs, the Regulation on personal data protection creates important challenges to EU data collection and exchange, requiring a legitimate purpose for health data collection. It is therefore urgent to set up a common regulatory, ethical and technical framework to avoid that spontaneous initiatives in EU Countries find sound but autonomous solutions and legal bases, resulting in a waste of time, resources and health. EPIRARE aims to carry out a feasibility study addressing regulatory, ethical and technical issues associated with the registration of RD patients and with the creation of a EU platform for the collection of data on RD patients and their communication among qualified users. Possibilities for long-term sustainability of registration in the platform will also be studied by seeking synergies among different interests like research, health technology assessment, management of healthcare and policy purposes. To this aim, the project will define options for the preparation of a legal basis, fields in which effective synergies can be achieved, governance framework and possible options to support the platform.
It is no doubt that EU integration and cohesion policies have greatly contributed to make rare diseases issues more visible and more comprehensible throughout Europe. Nevertheless, a lot of problems still exist. In your opinion, what is now the biggest challenge in rare diseases field in EU?
AK: I think the economic climate represents a major challenge to sustaining the progress we have made to date, and to continuing to improve services and support for rare disease patients. Downward financial pressures on health care systems are already resulting in cutbacks in many countries. There is a real threat that the artificial conflation of “rare” with “insignificant” will threaten services for rare disease patients disproportionately as funders try and cope with budgetary pressures, and rare disease specific services are often seen as expensive in terms of the cost per patient treated. We must resist this trend vigorously.
AM: Sustainability of existing and future actions in the field of rare diseases constitutes the main challenge for the coming years. The existing financial instruments in the ongoing EU programmes (Health Programme, FP7, etc.) not guarantee this sustainability. The future EU programmes to be adopted for the period 2014-2019 (Health fro Growth Programme, Horizon 2020) should includes this sustainability dimension. Public opinion should not forget that the budgetary authorities in the European Union are the European Parliament and the Council.
DT: All countries should have rare diseases on their political agenda and therefore they should start or continue policies followed by concrete actions. However, we know that this is not the case for many countries. There is no doubt that the role of the EU Commission is crucial through its initiatives and actions which will be reflected at national level. EUCERD has an enormous importance in this respect; the involvement of all Countries (of course following the democratic rules) in the EUCERD Bureau will give responsibility and opportunities to all.
In Eastern Europe we often say that solving rare diseases problems is rather a question of changing the stakeholders’ mind and attitude than designing particular policies. What’s your experience tells about it?
AK: I think perceptions are important. When rare diseases are seen as a whole then they become visible, and the need to act collectively and strategically becomes apparent to the health care system. Of course, individual rare diseases may require some specific interventions, but there is a commonality that can be created by clustering and the systematic use of scarce expertise through the development of centres of expertise. These can be real or virtual, and there must be imaginative use of novel ways of working such as e-medicine to bring this about. The first step though is to define the issue in a way that those with access to power, influence and resources can understand, and then see a way to address. Until this happens there is a risk that the needs of rare disease patients will be lost in the fog of competing demands on the time and attention of policymakers and the professional community.
AM: This is something valid in Eastern Countries or in Western Countries. It is estimated that between 6 000 and 8 000 distinct rare diseases exist today (currently 5 860 are described in the Orphanet database), affecting between 6% and 8% of the population in total. In other words, between 27 and 36 million people in the European Union are affected by a rare disease. If rare diseases should become a public health priority this should be the result of a change of mind in public health authorities that the European Commission promotes and support. A public health problem affecting 6-8% of the European population should be a priority in all the countries.
DT: I have the same experience in my Country, however I have also to underlay that specific policies such as National Plan or Strategy dedicated to rare diseases are needed to embed initiatives and actions in the health systems.
What’s your message to “Rare Diseases & Orphan Drugs” readers?
AK: In the last twenty years we have made significant progress. Research has generated insights into a growing number of rare diseases that could not have been imagined only a few years ago, and a growing number of conditions that were formerly life limiting are now treatable. However the vast majority of rare diseases remain poorly understood, and there is a long way to go before the needs of all rare disease patients can be properly met. We need to work together as patients to support each other in the pursuit of this shared goal, recognizing that solidarity will be a driver for progress. Together we can make a difference where separately we lack the voice to make ourselves heard in the corridors of power. Make doctors, scientists and politicians our allies on this journey. They want to do a good job too. Help them to see that, by listening to the patient voice and responding to it, their task will be made easier and we will all benefit as a result.
AM: Rare diseases constitutes an unique example of European added value and a privileged field for international cooperation but this is only feasible if the need of the European and international cooperation is understood by all the stakeholders everywhere.
DT: Unity is strength. Therefore, let’s continue and reinforce the collaboration among all different stakeholders, inside the same country and among all countries.
The new issue of “Rare Diseases & Orphan Drugs” is already available on our website. The cover story of this edition focuses on the European initiatives and projects on rare diseases. Alastair Kent (Genetic Alliance UK), Antoni Montserrat (European Commission) and Domenica Taruscio (Italian National Centre for Rare Diseases) share their views and comments on these topics. You can also read about the Spring National Meeting of the medical students in Bulgaria, a short review on Parkinson diseases, as well as many interesting news on rare diseases and orphan drugs field.
BAPES 2011 Activity Report has been added to the Publications Section of our website. You can find there detailed information on our 2011 projects and events, as well as to get acknowledged with our 2012 plans. BAPES and ICRDOD would like to thank to all rare diseases stakeholders, who have supported and contributed for these achievements.
Two new rare diseases patient associations have been recently established in Bulgaria – the Pituitary Association and the Association of Crohn Disease Patients. These organisations will definitely make the voice of rare diseases patients in Bulgarian louder and will help better communicate and collaborate with the other rare diseases stakeholders on national level. ICRDOD welcomes the teams behind these two projects and wishes them successful work on rare diseases issues. You can find more about them in our Patient Organisation Section.
The new edtion of “Rare Diseases & Orphan Drugs” is just in front of you. This issue covers Rare Disease Day 2012. You can read our discussion with rare diseases patients on topics like soridarity and how to make the society more aware of rare diseases problems. We also present you the scheduled Rare Disease Day 2012 events in Bulgaria and how to join them. Further, you will find updated information for BURQOL-RD study, as well as some recent European developments on rare diseases registries. Rare Diseases Library features the rare disorder blepharospasm. If you enjoy “Rare Diseases & Orphan Drugs”, do not forget to subscribe through the form in the right.