Report | Achievements of biotechnology in complex field of rare diseases

Photo: By Vincent Fournier / Sanofi

An estimated one in twenty people in Spain have a rare disease. In Europe, there are roughly 30 million patients. There are approximately 6,000 to 8,000 different rare diseases and there is only some sort of treatment currently available for a very small percentage of these. Why is it so low? “It is a large-scale health issue, but there is a real biological problem,” begins Rafael Artuch, group leader with the CIBER of Rare Diseases (CIBERER) and researcher at Hospital Sant Joan de Déu in Barcelona. “It is very difficult to find a joint focus and research strategy. That’s why we try to use the most transversal tools possible,” he notes. 

Not long ago, rare diseases were associated with paediatric pathologies because they affect key metabolic pathways and cell biology. The brain is the target organ in most of these conditions, as it is the least developed organ at birth. Technological advances have shown that rare diseases can also appear later, widening the focus of healthcare needs. But a good thing about science is that it is transversal: we can try to apply what is used for one disease to others; paediatric research can also be used to help adults. 

A cohesive network like no other

Dr Artuch’s team works in mitochondrial, metabolic and neuromuscular diseases that affect paediatric patients. Their main focus is diagnosing and developing biomarkers to monitor rare diseases. Patients that come to hospital with a suspected rare disease are sent to professionals who begin metabolic and genetic studies. These studies are broad enough to encompass the greatest possible number of rare diseases. “We miss some... and that’s why the network’s collaborative philosophy is crucial. When we don’t have the knowledge necessary about a certain disease, we consult our colleagues in the CIBERER network,” he explains. 

Despite the complexity of these diseases, Dr Artuch is very positive about the advances in genetics. Treatment, which seems to be one of the biggest challenges in this field followed closely by prevention, is also going to change with gene therapies. “We’ve massively increased our scientific production; we’ve joined forces; now we have to get the investment we see in other countries,” the expert recognises. 

Photo: Heteroplasmy / CIBERER

Dr Artuch has been studying rare diseases for over 20 years. When asked about a noteworthy achievement, one springs to mind instantly. In 2021, they published an epidemiological study of mitochondrial diseases in Spain. “It was great. We launched a nationwide campaign and 49 of the 50 provinces answered. This teamwork allowed us to identify roughly 3,000 cases. The response was sincere, unreserved, leaving aside competition and political differences. We broke down all those barriers among communities and believed in each other. And that’s key to advancing,” the researcher remembers. 

In fact, in the same line, CIBERER has set up a patient registry platform (GENRARE) to add scientific information that is very valuable for both scientists and patients. It has been up and running for a year and the goal is to expand this platform to cover more rare diseases.

Global benchmark and pioneer

Sanofi is a leader, pioneer and benchmark in tackling rare diseases, with over 40 years pushing the limits of medicine. They were the first to launch a treatment for a rare disease in the world and in Spain, too. Today, nearly 20% of all the company’s research and development projects focus on these highly complex and specific conditions, which remain a challenge to science. 

Raquel Tapia, Sanofi Iberia general manager for Speciality Care, explained the company is a benchmark in knowledge of lysosomal storage diseases such as Gaucher, Pompe, Fabry and MPSI. “But we won’t settle for that. We want to go further and offer solutions in one of the areas with the most serious unmet needs: rare blood disorders. Last year we broke down barriers through innovative science to help people with Acquired Thrombotic Thrombocytopenic Purpura (aTTP) and are committed to breaking down more, as you can see in the clinical trials on other minority diseases we have under way,” she says. 

After so many challenges, as well as many achievements in minority disorders over the past 40 years, Tapia highlights, “On top of the challenge of finding innovative treatments for uncommon diseases, the regulatory framework poses an additional challenge.” And in this regard, she notes, “We still have a lot to do in Spain to improve access to innovative treatments if we want to keep up with the big countries in Europe.” 

Looking to the future, Tapia explains, they are researching enzyme-replacement therapies to improve treatment for people with Pompe disease and provide the first therapeutic option for ASMD, a condition with a high morbi-mortality rate. “We’re also working to develop a therapeutic agent based on RNAi for haemophilia A and B, and we’ve started researching gene therapy, among other projects. It is worth mentioning that these projects include our efforts in areas that currently have no options,” she concludes. 

More projects to fight rare diseases

There are many other AseBio members working in this challenging and important area of global health.  Currently, 67 companies or organisations are working on topics associated with rare diseases, 23 of which are working on innovative therapeutic solutions to over thirty conditions, including Fragile X-syndrome, Friedreich’s ataxia and Huntington’s Chorea. Over 50 companies are involved in developing diagnostic products and services, mainly using genetics, for the majority of rare diseases with known causes.