Rare diseases: wider access to treatment is needed

AstraZeneca is known as a company that produces drugs used, among others, in cardiological, metabolic, oncological, neurological and respiratory diseases. Rare diseases have become another area of ​​interest for the company. Why?

Our history in this area began some time ago with a drug used to treat inoperable plexiform neurofibromas in children and adolescents with neurofibromatosis type 1. We see that this is an area with significant unmet medical needs, where patients are waiting for new, innovative therapies. This is also an area where diagnostics is a huge challenge, there is simply still a lot to do. Therefore, more than two years ago, AstraZeneca decided to develop in this area by acquiring the American biotechnology company Alexion. Now our orphan drug portfolio has significantly expanded and includes five preparations intended for the treatment of seven rare and ultra-rare diseases – all of them are innovative, and some are unique in their class.

Additionally, seeing the growing potential of the Polish market, we decided to locate the Alexion Pharma Poland clinical research center in Poland, which will be responsible for all key phase III projects in rare diseases. This decision involves an investment of EUR 6 million per year.

Rare diseases are not that rare at all, because – as estimated – 2-3 million, and according to some sources, even 4 million Poles suffer from them. What is the situation of a patient with a rare disease in Poland?

It is difficult to answer this question unequivocally because this is an extremely heterogeneous group of patients – we are talking about several million people out of approximately 7,000. various rare diseases. I will refer to a document that collects and organizes knowledge on this subject. What I mean here is the Audit of the Orphan National Forum on the needs of patients with rare diseases in terms of access to medical technologies and optimization of care. Two editions have already been held (in 2021 and 2022), during which 51 patient organizations with various rare diseases were invited to express their opinions. In the last edition of the audit, 40 percent. of respondents assessed that the situation of people with rare diseases has changed for the better over the past year, while 60% noticed no improvement.

Number one on the list of unmet needs was the need to improve and optimize care, especially the creation of reference centers and a coordinated care model. Then, patients mentioned the need to improve access to modern drug technologies, diagnostics and organizational changes, such as doctor education, providing services to patients, and support for family and caregivers. A lot has happened in these areas over the last year, so I am very curious about the results of the latest audit, which we will know in September. I hope there will be reasons for optimism.

Can the Rare Disease Plan improve a patient’s situation? What other actions should be taken to improve the patient’s situation?

Definitely yes. This document is the basis for coordinated implementation of activities supporting the diagnosis and therapy of patients with rare diseases. First of all, you should focus on implementing the assumptions of the Plan. It assumes the establishment of expert centers and the certification of diagnostic laboratories that are to cooperate with these centres. We are talking about coordinated care, about the passport of a patient with a rare disease. These are all very interesting and needed ideas. It is important that they are implemented as soon as possible, because time is of the essence for a patient with a rare disease.

Approx. 80 percent rare diseases have a genetic basis. This means that, as in the case of many oncological diseases, specialized genetic diagnosis is necessary. What should be improved in Poland in this regard?

Diagnostics – this is an area that is still unfortunately lacking in Poland. Almost 90 percent patients with rare diseases remain undiagnosed, and the diagnostic odyssey takes an average of five years. There is huge room for improvement, and early diagnosis means much lower treatment costs.

The crux of the problem is that we can correctly recognize the disease. Here, genetic diagnosis is of key importance, as in oncology. The key issue is to provide funding for diagnostic genetic testing for pediatric and adult patients. A great model to follow is the model that has been developed in oncology thanks to the adopted oncology strategy.

We need to use this model as soon as possible to develop a model for financing diagnostic genetic tests in rare diseases. Such areas are also defined by the National Plan for Rare Diseases, which sets directions for the development of diagnostics and treatment of rare diseases. Therefore, it is crucial that the law on genetic tests, which regulates these issues, enters into force. Additionally, it also defines quality parameters for laboratories performing genetic tests, so that each patient’s result is reliable.

It is known that the process of developing an innovative drug takes up to several years and can cost several billion euros. What about molecules used in rare diseases? Why are these therapies so expensive and how can they be financed?

Exactly, and in the case of clinical trials on molecules used in rare diseases, the complexity of this process is much greater and, consequently, the cost of developing such a drug is higher. Due to the small population and low level of diagnosis, clinical trials in rare diseases are conducted in a wide geographical area, taking into account various legal requirements.

The development process of such a drug in most cases covers the pediatric population, which means that the innovative company must meet additional, stringent legal requirements. The high degree of complexity of the process makes therapies expensive and therefore a challenge for health care systems. This creates a kind of closed circle, the effect of which is the number of targeted therapies in rare diseases – only about 5 percent. diseases out of 7,000 it has.

As for financing, the challenge here is both the evaluation and reimbursement of therapy, which justifies the need to introduce different solutions than in the case of therapy in population diseases. In Poland, this problem has already been noticed by decision-makers, the effects of which can be seen in the form of postulates contained in the previously mentioned Plan for Rare Diseases.

These include the introduction of a separate cost-effectiveness threshold for orphan drugs into the reimbursement act, the introduction of changes in the assessment of HTA in rare diseases through the use of a tool such as MCDA (multi-criteria decision analysis) or support for the development and wider use of risk-sharing instruments, including those related to health effects.

We believe that this is a good direction and we are waiting for the implementation of changes that will take into account the specificity of rare diseases not only in terms of costs, but also clinically and socially. We believe that the health care system should be based on the principle of egalitarianism and equality in access to treatment, and changes in the approach to assessing the reimbursement of therapy in rare diseases are necessary to enable wider access to treatment for these narrow groups of patients.

Interviewer: Katarzyna Pinkosz