Repositioning the active substance Swiss laboratory uses old drugs against rare diseases

A Swiss university laboratory has successfully repurposed existing medications to treat a rare genetic disorder affecting approximately 400 people worldwide. The discovery was made five years ago by researchers led by Vladimir Katanev at the University of Geneva. His team found that widely available zinc salts could potentially manage the condition, which is caused by mutations in a specific gene and leads to severe seizures, developmental delays, and movement disorders. The approach of using approved drugs for new purposes, known as drug repurposing, is not entirely novel. Many well-known medications were originally developed for different uses before finding their current applications. For example, GLP-1 drugs used to treat obesity and sildenafil, commonly known as Viagra, were initially tested for other conditions. Now, this strategy is gaining increasing attention in addressing rare diseases, where treatment options remain scarce. Of the roughly 7,000 identified rare diseases, only six percent have approved treatments. This gap has prompted researchers to explore alternative methods, such as drug repurposing, which can lead to therapies more quickly and with less investment compared to developing entirely new drugs. According to a report by data analytics firm Evaluate, the proportion of drug candidates targeting rare diseases is projected to decline from 30 percent in 2027 to 22 percent in 2032. “We need other approaches,” Katanev emphasized. “Drug repurposing offers a shortcut to develop medicines relatively quickly and with lower costs.” Advancements in genetics and artificial intelligence have enabled university laboratories like Katanev’s to better understand the mutations responsible for these diseases. High-throughput screening facilities allow researchers to analyze vast amounts of molecular data and create computer models to test potential drugs. Katanev's team used this method to screen nearly 3,000 FDA-approved medications in the United States. Currently, they are working with postdoctoral researchers in Geneva to address six distinct genetic disorders. As healthcare systems face growing pressures, initiatives and patient groups are increasingly advocating for the use of already approved substances for new medical indications. Experts estimate that 75 percent of existing medications could be applicable to other diseases. However, challenges persist. Even though a medication might already exist, obtaining approval and reimbursement for its new use is far from straightforward. Academic laboratories often lack the resources, regulatory expertise, and clinical development experience needed to navigate the lengthy and complex process required to bring repurposed drugs to market. Pharmaceutical companies typically avoid testing and marketing older drugs due to limited financial incentives. Without industry involvement, patient organizations often bear the cost of these efforts. These groups must make difficult decisions about how to allocate their very limited funds. Despite these hurdles, the work being done at the University of Geneva represents a promising step forward in addressing the urgent need for treatments for rare diseases. The collaboration between Katanev’s lab and patient advocacy groups, such as ASNSD, highlights the importance of partnerships in advancing research into rare conditions. By leveraging existing knowledge and technologies, scientists are opening new pathways to find effective treatments for patients who currently have few options.