Susanne Kircher and Michaela Weigl of MPS Europe GmbH discuss the importance of raising awareness of rare diseases and MPS across Europe.
Mucopolysaccharide storage diseases (MPS) are rare lysosomal disorders caused by inherited enzyme deficiencies involved in the degradation process of glycosaminoglycans (GAGs) of connective tissue. The enzyme deficiency results in progressive accumulation of GAGs in the cells followed by increasing organ sizes and disturbances of organ functions. Besides various somatic symptoms – such as distinct faces, small stature, skeletal deformities, hepatomegaly, and splenomegaly – patients develop successive organ dysfunctions, such as cardiac and respiratory problems, impairment of visual and auditory systems; and intellectual disabilities.
Mucopolysaccharide storage diseases are very rare – on average, one in 35,000 people are affected. Some types of MPS (for instance type VII and IX) were only observed in a few families worldwide or in single families. In general, there is not much knowledge about MPS, and the affected and their families feel isolated. Although there is some effective treatment by enzyme replacement therapy (ERT) for five of the 11 different MPS types, which means regular infusions of the missing enzymes for the patients however, not all patients are properly diagnosed, have the appropriate medical care and treatment, or can benefit from the therapeutic options due to the regulations of their national health systems.
Many efforts toward improved and earlier diagnoses, better medical care and treatment, more knowledge about the disease, and more awareness for the disorder have been conducted by the families of affected patients themselves; that which could not be realised by a single family became reality as a merger of parents’ groups. The first European parents’ groups started in the 1980s with the English and Austrian Mucopolysaccharide Storage Diseases Society. Many others followed suit and it is a fact that any research for enzyme replacement therapy (and first trials with gene therapy) was based on the incredible efforts of the patients and their families. None of the clinical trials would have been possible without their engagement.
On 30 November 2017, MPS Europe GmbH was founded to give more than 2000 European MPS patients a stronger common voice and to increase awareness of the rare disorders. After a two-year preliminary phase and intensive preparations, the European umbrella organisation started with 12 members: Austria, Denmark, Germany, Hungary, Ireland, Italy, Netherlands, Serbia, Spain, Sweden, Switzerland and the United Kingdom. In 2019, five additional countries – Belgium, Greece, Lithuania, Russia and Turkey – will join MPS Europe gGmbH.
The office of the non-profit organisation is in Germany (Aschaffenburg); on the advisory board there are five Member States: MPS Switzerland (represented by Alfred Wiesbauer, chairman), Austria (represented by Michaela Weigl, vice-chairman), MPS Serbia (represented by Dragana Miletic Lajko), MPS Spain (represented by Ana Maria Mendoza Mastre) and MPS Germany (represented by Georg Schetter). The executive directors are Marija Joldic and Carmen Kunkel.
The Mission of MPS Europe is to enhance the quality of life of persons affected with mucopolysaccharide storage diseases and related conditions across Europe. The tasks and objectives are to offer support for MPS patients and national MPS societies, support for the availability of adequate care and treatment for MPS patients, to represent patients in European Medicines Agency (EMA) and other European institutions; and to implement an independent European patients’ registry. Further aims include the organisation of European and international workshops and conferences, support of MPS groups, improved information about recent clinical trials, state-of-the art-therapies, and organisation of activities on the annual International MPS Day: May 15th, 2019.
In 2018 MPS Europe focused on adult MPS and related diseases patients at the first Adult MPS patients meeting “Stand on Your Own”. The goal of this meeting was to encourage and empower adult MPS patients to be independent – stand on their own. This goal was achieved when patients with adult mucopolysaccharide storage diseases and related conditions compared their experiences of living in different European countries and proposed solutions for improving their own lives. Participants between the ages of 17 and 53 years attended from eight different European countries. The agenda included following topics:
- Living with mucopolysaccharide storage diseases: what does a chronic disease mean for me? – psychological workshop;
- Vacation with or despite MPS;
- Living in Europe: put needs and expectations together;
- Working groups on different topics: education and employment situation, access to medical care, medicines and medical devices, social and psychological help and support; and
- Raising the adult patient’s voice.
Based on the questionnaire on mapping the needs, the evaluation form provided at the end, and positive feedback of this specific group we are planning to organize second annual Adult MPS patients meeting “Stand on Your Own” in September/October 2019 in Italy with the same concept and the same goal. We want to hear their voice, their unmet needs and how MPS Europe can provide them full support.
The program will be tailored according to their needs and include psychological help and support in peer-to-peer workshops, cross-border health and social care, education on medicines development and clinical trials, pain management and physical exercise with disabilities, art and mucopolysaccharide storage diseases; and raising adult MPS patients’ voice.
All MPS Europe members were asked to make a statement on the current situation in their country – their responses are listed below:
“One problem that I still see in Austria is that the funding of the therapies is not legally anchored and health insurance companies can easily resist the reimbursement of costs. In doing so, they automatically close our patients’ path to home therapy, which would bring about a tremendous increase in the quality of life for many.
“The federal system also makes it difficult to have equitable, equal access to medicines, aids and therapies – deductibles are widely varying from zero up to 100%, depending not only on their individual social insurances but also from the part of the country they are living in.
Furthermore, I see a lack of awareness and thus the problem of later diagnosis, and thus less successful therapy. Subsequently this could then lead to birth of several children within families with mucopolysaccharide storage diseases. In fact, there are regions in Austria where we are not aware of a single patient. The reason for that could be a lack of awareness and misdiagnosis, because there is no reasonable explanation why we should not have any patients in the whole province of Tyrol, for example.
“It is unjust that there is a constant talk of a cost explosion because of the rare diseases. This is not true at all, because the price trend runs parallel to the contribution cost increase – there is no cost explosion, but rather an ‘explosion’ in performance. It is not acceptable that patients are named and shamed for something they are not to blame for, that their medicines are expensive. Therefore, we need solidarity and not resource allocation or cost-benefit analysis.”
“I think the greatest challenge for us in Belgium is the price setting of new treatments. Our government does not want to pay this high price of ODs which do not even have proof of effectiveness. Therefore, pharmaceutical industry must be aware that they must set a reasonable price for their products for the wellbeing of the patients, who are their core business.”
“Enzyme replacement therapy has been the way to deal with most of the MPS affected patients. Soon gene therapy will be an option to consider. The national hospitals need to deal with this, but also families with mucopolysaccharide storage diseases need to consider whether their MPS-affected children should approach gene therapy. We need to share insights in gene therapy in order to have the best possible basis for taking a decision.”
“In Germany, there are two things which bother me a lot: on the one hand, the absolute underfunding of specialised metabolic centres – the payment for the care of patients with rare diseases is not adequately covered – on the other hand the topic of home therapy, both the payment as well as the gift, is in a legal grey area and the doctors who allow it hang legally by a thread.”
“Due to the economic crisis we had patients with mucopolysaccharide storage diseases who had been waiting for a long time to start their therapy. There is a great concern surrounding whether they will be able to continue this therapy in the future due to the high cost. We are afraid that new innovative medicines for rare diseases in the future will not be able to be covered by health authorities, not only in Greece, but also across Europe.
“There is a great concern about holistic health care of the diseases as mainly neurologists and cardiologists are monitoring them. Some of the patients travel abroad to be checked by specialised centres in Europe.
“The majority of the adult patients are unemployed: they can’t find a job in the private sector. There are no specialised social services or resource centres that would connect health needs and social needs. Psychologists and social services need to be addressed. Moreover, our association is trying to empower our patients concerning their rights with the collaboration of the new offices of patients’ rights in big hospitals.
“This year, after a long struggle, for the first time ever, mucopolysaccharide storage diseases are being recognised as irreversible diseases, and MPS diseases are described and categorised in the metabolic diseases in the chart of disability grade regulation. This means that all MPS patients get a grade of over 67 per cent disability and from now on they will be tested only once in their life for their disability; and therefore will be entitled to their benefits without having to pass assessment again.”
“At the moment it is a serious problem for us as there is no place to accommodate the patients during the day or even for a few hours while parents and carers are working, taking care of the authorities or possibly just resting, regenerating, or recharging. Of course, we would be pleased if there was a perfect therapy for every form of MPS.”
“In Italy we are fighting for two important things to change the lives of our patients and of the people in general.
“First of all: newborn screening. For some kinds of mucopolysaccharide storage diseases we have the therapy and we don’t understand why it’s not possible to include them in screenings together with other rare diseases. It’s a long fight.
“The second thing that would benefit families is home therapy. Unfortunately, in Italy public health is a kind of ‘federal state’. Each region follows the general guidelines but then has a separate regulation. Many of our patients must drive to the specific hospital for many hours because it is far from their hometown, have their therapy and come back home in the evening.
“This creates several problems, such as: the child or the adult gets tired because of the trip, parents lose days at work that not always are covered or paid, and children lose days at school. If they could receive the therapy in their home their quality of lives would definitely improve. Only few regions allow this and we, together with other rare diseases associations, are soliciting our government in order to get it. We have been working on it for three years, and we are finally seeing the first results, however, the path is hard as this will bring huge amounts of work and burden regarding the training of medical personnel.”
“The two main problems we have in Ireland are lack of respite care for both adults and children suffering from mucopolysaccharide storage diseases; and lack of social support for adults who wish to be more independent.”
“Lithuania has a population of 2.8 million: among this, the number of people suffering from MPS more or less 20 individuals, including adults. No data basis, no law basis, no professionals. That’s how we started six years ago.
“The Rare Diseases Act was signed by the Lithuanian Ministry of Health during the last days of 2015. While the Children’s Rare Disease Centre was established back in 2012 and is getting stronger, there is still no coordinator for adult patients and no automatic transition from paediatric to adult care once a patient turns 18.
“This causes interruptions during annual medical examinations, which may play a crucial role in constantly progressing mucopolysaccharide storage diseases. Due to an indefinite order of places for enzyme replacement therapy, people are forced to travel up to 600 km to a particular hospital for infusions; which, in the long run, is barely compatible with their studies or work and physical condition in general. That in turn leads to psychological problems and creates social boundaries.”
“The situation is that existing treatments are not reimbursed and so not available in the Netherlands.”
“In Serbia, 30 people with different types of mucopolysaccharide storage diseases are suffering, most of them are children. The greatest challenges for them, their families and MPS Serbia, as a patients’ organisation, is access to treatment. The fight for therapy for MPS II and MPS IVA will not succeeded without the help of great media campaigns. Our next struggle is to include MPS IVA adults on enzyme replacement therapy as well.
“MPS Serbia believes that raising awareness for people living with MPS is half of the road to better diagnostics, access to treatment, and improvement of quality of life. That is why the majority of the association’s activities tend to include the broader public. By being a part of MPS Europe, we hope to contribute to the mutual goals for all patients in Europe and to push for the same conditions of treatment as in any other European country, in Serbia, including access to the clinical trials.”
“There are a vast number of problems for people living with MPS and rare diseases in general in Spain, the two most serious of which are:
“Orphan drugs approval: The number of approvals has decreased in the last 10 years; nowadays, one of every three drugs approved in Europe by EMA is not approved in Spain. On the other hand, the evaluation of these drugs by the Spanish agency (AEMPS) is usually a very slow process, up to two years in some cases (the average is 18 months). This is too long for people living with degenerative diseases.
“Unequal access to treatment: The public health system is very complicated. Spain is divided in 17 autonomic regions, with their own competences in sanity and education. Depending on where you live, it could be easier or more difficult to get treatment. Some regions have their own committees, some hospitals also have committees, however, there are a lot of bureaucratic obstacles, which is a frustrating and difficult situation for patients. This unequal situation also occurs with social support, aids for patients and families, and health programmes.
“Patients and societies want to change this health system model for rare disorders because the problems are bigger than common pathologies. It’s necessary that the Spanish government promote new laws and provide a budget to cover these treatments – this is difficult but not impossible.”
“There is treatment out there which exists for patients with mucopolysaccharide storage diseases; however, the government has decided it is too expensive to subsidise. It is very difficult to get access to support as a lot of policy makers are unsure about what MPS is and therefore, there is a major gap in access to resources such as special needs professionals, rehabilitation, and treatments.”
“The European Union has, in general, relatively simple common laws dealing with health issues; while the Swiss health system is relatively complicated, being broken down to the lowest possible level of cantons, which are technically unities of anywhere between 25,000 and 500,000 people. So, whenever permission is required to obtain something like ERT, for instance, you might end up at a hospital that serves 25,000 people and which is in no way competent enough to make such high-level decisions.
“Within this complex landscape the Swiss MPS Society is working very hard politically in order to push for some sort of change. This is evidenced perhaps by our media presence: we are continually trying to place something in a newspaper or TV station to promote awareness of the disease and what we believe needs to change.
“The MPS Society UK supports over 1200 people of all ages with mucopolysaccharide storage diseases, Fabry and related diseases. It is increasingly challenging to secure approval and reimbursement for rare and ultra-rare diseases in the UK. Both existing and new therapies should be made available to our communities because they offer the chance of an improved quality of life and a reduction of the burden of disease on society.
“In some cases, because of these novel treatments and therapies, some within our community now have the opportunity to seek paid employment and other opportunities that many take for granted. Just because these people have a rare disease does not mean they are not entitled to live as full and rich a life as possible. Yes, the treatments can be expensive but not compared to their impact on the wellbeing of the patient and their families. We all have a duty in society to support the most vulnerable and that is what the MPS Society UK does; gives a voice to those who would otherwise not be heard. Together with our colleagues from patient organisations around the world, we will work tirelessly to improve the lives of those affected by MPS, Fabry and related diseases.”
Assistant Professor Dr Susanne Gerit Kircher
Center of Pathobiochemistry and Genetics
Lysosomal Screening Unit
Medical University of Vienna