Tailor-made medicines - Brno pharmacologists develop drugs for rare diseases

Some of the roughly 7,000 described rare diseases affect about 5% of the population. In the Czech Republic, estimates speak of between 350 and 600 thousand patients who face a not very widespread but often serious diagnosis. For now, a team of scientists from the Masaryk University Faculty of Medicine is bringing them at least hope by developing drugs under a project that is unparalleled in the Central European region.

28 Feb 2023

Jakub Johaník, Regina Demlová, Lenka Součková

Conventional chemical drugs make up - and will always make up - the majority of available pharmacological products. By their very nature, however, they cannot work universally for all patients. The team led by Associate Professor Regina Demlova, Head of the Institute of Pharmacology at Masaryk University Medical School, is therefore focusing its efforts on developing personalised treatments. The possibility of using the potential of gene and cell therapies for the permanent treatment of patients with rare diseases is considered one of the greatest challenges of modern medicine. It is also a hope for patients for whom, in many cases, treatment is not available at all or is difficult to access legally and financially.

Whether it is the development of a dendritic cell-based cancer vaccine or a drug based on mesenchymal stem cells capable of repairing damaged tissue. The latter could mean future relief for patients diagnosed with butterfly wings; nearly four hundred patients in the Czech Republic suffer from the disease, which is characterised by painful blisters on the skin. "In simple terms, we are modifying human cells to improve features that the cells of patients lack. In this way, they can then help specific patients," says Regina Demlová, who also heads the CZECRIN research infrastructure focused on academic clinical research.

"The pharmaceutical industry conducts clinical trials to register innovative medicines, but even after their registration, it is necessary to conduct independent clinical trials that provide new insights into their optimal use or correct dosage." Specifically, the development of a drug for butterfly wing disease is still in the first of three necessary phases to provide safety data. In the next one, efficacy will come next.

Demlová admits that it is a long run, although her team is managing to shorten the drug development timeline. CZECRIN has become a Western-standard research infrastructure in ten years. Last year, moreover, he and his colleagues registered an unprecedented success for the faculty when they were awarded a European grant for the CREATIC project, which aims to link geographically close academic and clinical sites to increase the availability of highly personalised treatments, including gene therapies throughout the entire development process.

"The implementation of this project will create a world-class facility for the research and development of gene and cell therapies for the permanent treatment of patients with rare diseases for which there is currently no adequate standard treatment. As a whole, CREATIC will be able to offer patients and society safe, unique and financially sustainable treatments within the concept of equitable medicine. Since we are in the non-commercial sphere, we have no shareholders, so we can determine what medicines we will develop ourselves," Demlová explains the uniqueness of the new six-year project from her position as its guarantor.

On the grounds of the Faculty of Medicine, Masaryk University, drugs affecting not only butterfly wing diseases but also other monogenic diseases, i.e. those caused by one particular gene mutation, can be developed. "We certainly won't be able to cure all patients with rare diseases, but for certain types of diseases, our solution is definitely the way to go. And I believe that in a few - even decades - we will be able to correct faulty genetic information and help patients with our products."

CZECRIN is a research infrastructure supporting the implementation of academic clinical research in the Czech Republic. As the Czech node of the European Network of Clinical Research Infrastructures ECRIN-ERIC, it contributes substantially to the involvement of academic institutions in international clinical research projects. It has been working at the CZECRIN Institute of Pharmacology since 2014. It is funded by the Ministry of Education, Youth and Sports. The beneficiary of the project is the Faculty of Medicine of Masaryk University and its main partner is St. Anne's University Hospital in Brno.

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