World Rare Disease Day: advances in clinical trials and expansion of genetic diagnostics are essential for the development of precision medicine

By: Trademagazin Date: 2026. 03. 03. 09:15

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Rare diseases affect about a quarter of the Hungarian population directly or indirectly, yet they are mostly invisible to society. Three quarters of those affected by approximately eight thousand different diseases are children, and nearly 95 percent of diagnoses have not yet been associated with an approved targeted therapy. Novartis Hungary is involved in research into numerous rare diseases with the aim of providing patients with real, long-term solutions, contributing to a significant improvement in their quality of life. February 28th was World Rare Disease Day – on this occasion, we would like to draw attention to the professional efforts and results that have allowed clinical trials to develop significantly and genetic diagnostics to expand in recent years.

More than 300 million people worldwide suffer from some kind of rare disease, and in Hungary their number can be estimated at nearly 800 thousand. Approximately 50-75 percent of those directly affected are children, which also means that the lives of a quarter of the Hungarian population are affected in some way by these diseases, which are less well-known to society. Although one might think that the number of patients has increased so significantly in the last ten to fifteen years, the greater visibility is primarily due to the fact that with the significant expansion of genetic diagnostics, many more rare diseases can now be identified than before.

About 80 percent of the rare diseases known today are of genetic origin, therefore cannot be prevented in the classical sense – however, in many cases, early detection is of paramount importance, as targeted treatment initiated on time can often minimize the negative effects of the disease, and patients can even live a full life. Numerous clinical trials at Novartis specifically focus on these types of diseases, and research is leading to the development of precision medicines that can not only treat the symptoms, but also eliminate the root cause of the diseases.

The company’s Hungarian clinical trial team, in collaboration with doctors and healthcare professionals from partner institutions, primarily conducts research in the fields of neuromuscular (neuromuscular origin), neurological (neurological), hematological (affecting blood-forming and lymphatic organs) and immunological rare diseases, while domestic trial sites have also previously participated in the mapping of several rare ophthalmological diseases. Spinal muscular atrophy (SMA) is a leading neuromuscular disease, where Novartis’ innovative therapies have opened a new era in patient care and a better understanding of the disease. Among the rare hematological diseases, paroxysmal nocturnal hemoglobinuria (PNH) is worth mentioning, which is a life-threatening chronic hematopoietic disorder characterized by the destruction of red blood cells and bone marrow failure. The company’s researchers have also achieved important results in the study of C3 glomerulopathy, a chronic kidney disease caused by an overactive complement system.

“The continuous development of science has opened up new horizons in Novartis research: today we are working on the possibilities of treating diseases for which not so long ago we did not have therapeutic solutions. On the occasion of World Rare Disease Day, we would like to draw attention to these results and reaffirm our commitment to helping those suffering from the disease. alongside”

– said Dr. István Nagy, Head of Clinical Trials at Novartis Hungária.