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Rare diseases: an example of patients-researchers’ interaction

Only rarely the merits of societal impact are perceived in the assessment of one’s scientific output. Here, the other side of the coin is uncovered thanks to Christoph Poincilit, a leading figure in the rare disease associations and in particular among patients and families suffering from Niemann-Pick disease. Through the description of the status quo and problems related to that particular disease, he reveals the role, hope and responsibility we, as basic research scientists, represent for them.

What is Niemann-Pick disease Type C?

Niemann-Pick disease type C (NP-C) is a Lysosomal Storage Disease (LSD). Lysosomes are something like the cell’s sewage system and during the course of this hereditary disease the lysosomes become clogged and cannot fulfil their function to clean-up the cells anymore. This affects mainly neurons and the patients suffer from symptoms that affect both psyche and motor abilities with a fatal outcome. Unlike many other genetic diseases, the symptoms sometimes manifest themselves only after childhood. For a detailed description of the disease, you can have a look on the INPDA website.

How many cases of Niemann-Pick are there in Switzerland, how many in the world?

Our association, NPSuisse, currently represents ten patients and there are probably around fifteen cases of NP-C in Switzerland, in Germany around one hundred. With an estimated frequency of one patient in every 120’000 births this is a very rare disease but there are still many carriers of the causing mutations in the overall population.

What is the current treatment of the disease? What are the problems with the status quo?

At the moment no cure for NP-C exists but the development of symptoms can be slowed down with Miglustat that has been approved for another related LSD. Miglustat is given orally. While Miglustat is an approved treatment in some countries like Germany, it is not on the list of medications that health insurances have to reimburse in Switzerland. Therefore, the efficacy has to be tested every 6 months and if the treatment does not show sufficient results anymore the insurances may stop further payments. Miglustat therapy is very expensive and without financial support the patients cannot continue the treatment. There are also new compounds like Cyclodextrin which is tested in two clinical trials for intra-venous and intra-thecal administration. Intra-thecal means administered by spinal injection every two weeks as the target is the brain and the compound shows difficulty to cross the blood-brain-barrier. Unfortunately, also in this case the final treatment might become very expensive after consecutive acquisitions of the initial start-up and the small pharma company that bought the start-up. In the end, pharma companies want to recover these investments and can only make good revenues with treatments for rare diseases if the cost is very high.

What is the aim of your association?

Our goal is to support the NP-C patients mainly in two ways: First, the more political aspect of protecting the patients’ rights and second, by raising money to support research to better understand the disease and to develop new treatments.

How do you interact with researchers?

Apart from personal contacts with researchers we organize different types of conferences. Following the advice of Prof. Jean Gruenberg (NCCR chemical biology member from the University of Geneva), we invite NP-C researchers and clinicians to the international Loire Valley Meeting which will take place this fall for the 4th time since 2012. The objective is to share all possible ideas and discuss the latest and even unpublished research. To achieve this, we follow strict neutrality towards different approaches of treatment and we ask for confidentiality of the participants. Therefore, we don’t use any money from the pharmaceutical industry for the organization and we don’t invite pharma representatives. A second conference is aimed at developing a strategy for gene therapy to cure the disease. In addition, other associations (USA, UK, Germany, etc.) also organize meetings where researchers meet with patients and their families to communicate the present state of research.

What is the impact that basic research can have on understanding and treating rare diseases?

It is important to understand the disease better and then develop new treatments bottom-up but at the same time we also need top-down research to better understand why and how certain treatments work. The scientific research not only helps to develop a cure for Niemann-Pick disease but it also helps to shed light on other disorders with related symptoms. Therefore, the overall impact of this research is much broader.

Research labs cannot develop a treatment for rare diseases independently. How can new treatments be developed when companies cannot expect to make a big profit?

A future treatment with low profit is difficult to achieve. In the beginning researchers are working very closely together with the patients and their families and this involvement should be recognized by patients’ rights on the resulting shared patents. We think that pharma should not be involved too early in the process because interest in the patients’ rights is not their first priority. We need more influence of politicians that protect the patients’ rights on a higher level. We need to have more involvement of national and especially international organizations like the EU or the WHO. They can help to bring seed money for the research and ensure that at the end the treatment serves the patients’ interest first.

Some aspects of NP-C treatment like passing the blood-brain-barrier are of broader interest and solving this problem would be of broader use and therefore bigger financial interest for companies. Therefore, developing new treatments for NP-C can indeed generate profits as some aspects of the new technologies can be used in other contexts.

Christoph Poincilit NPSuisseAs a civil engineer specialized in water management, Christoph Poincilit started his career performing technical tasks for large industrial projects, moving then to a more marketing-oriented activity to finally join the insurance and reinsurance industry. In 2010, all his children were diagnosed with the rare Niemann-Pick disease, Type C. Since 2015, he is retired, working for charity activities at NPSuisse (Swiss Niemann-Pick Association), INPDA (International Niemann-Pick Disease Alliance) and RDI (Rare Disease International).



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  • Natasha Pavey

    Hi there,

    I am an international student looking to do research on NPC disease in Switzerland… do you know of any ongoing research projects which will be running in the later of this year?

    Many kind regards