• Date: February 28, 2019

International Rare Disease Day, held annually on the last day of February, calls for research institutions, organisations and individuals to take action to address the needs of people who suffer from rare diseases, which are all too often neglected. To mark this day, we spoke to Antoni Matilla, a researcher from Fundació Institut d’Investigació en Ciències de la salut Germans Trias i Pujol (IGTP), who led the 2016 CaixaImpulse project, Gene therapy to treat Friedreich’s Ataxia, now operating as a spin-off named Biointaxis S.L.

As well as updating us on the development of his project and research to combat Friedreich’s ataxia, a debilitating rare disease, he discusses the importance of spreading awareness and bringing rare diseases to the forefront.

The Biointaxis S.L. team: (from left) Marc Corral, Kerrie Adrian, Eudald Balagué, Antoni Matilla, Ivelisse Sánchez, Daniel Cota, Nina Bucêvič.

What are the biggest challenges you face as a researcher in rare diseases?

Without any doubt the biggest challenge we face as researchers in rare diseases is identifying and implementing effective treatments to patients. For that, obtaining funding for research is crucial, albeit not easy when dealing with rare diseases.

Traditionally, they receive a low level of resources for research and patient support from public and private institutions and organizations. In fact, the traditional shortage of investment from pharmaceutical companies is erroneously justified by the enormous expenses and the limited return because they are precisely rare.

This is not true for most rare diseases, and with an intimate collaboration between academic research institutes and the pharmaceutical or biotechnology industry, the development of treatments could be achieved.


Your project, which was selected in the 2016 CaixaImpulse call, seeks to develop the first-in-class therapy for Friedreich's ataxia (FRDA) by stopping, preventing or slowing the progression of the neurological symptoms. For the benefit of our audience, could you explain exactly what FRDA is, and the aims of your project?

Friedreich's ataxia is a devastating progressive neurodegenerative disease of genetic origin considered rare due to its low prevalence, affecting some 3,500 patients in Spain, many of them children, for which there is currently no cure. The disease begins in childhood or adolescence and a few years from onset, people who suffer from it are confined to a wheelchair. Patients suffer from an inability to coordinate movements correctly, as well as heart problems, diabetes, deficits in vision and articulation of words and loss of sensibility.

The scientific research that has been carried out since 2014 in the Neurogenetics Unit of the Germans Trias i Pujol Health Science Research Institute (IGTP) focuses on implementing a therapeutic strategy of gene therapy for Friedreich's ataxia based on a particular type of virus that is the most frequently used in clinical trials at present which is the adeno-associated viruses (AAV).


What is the current status of the project?

In December 2018 the project successfully completed the pre-clinical phase where ataxia and the clinical signs were corrected with the transfer of frataxin protein to a mouse model with the disease, through the use of a vector based on adeno-associated virus (AAV), to the damaged neurons that are located mainly in the spinal cord and cerebellum. Our research is now being transferred in the design of a clinical trial for patients with Friedreich's Ataxia.

Also, in December 2018 an International patent was obtained to protect the gene therapy product used in the project. The patent of the technology was licensed in July 2018 to the biotechnological spin-off Biointaxis S.L., with the goal of developing a gene therapy drug for the curative treatment of Friedreich's Ataxia.

We strongly believe that establishing a small biotech company, Biointaxis, should facilitate to develop and lead the drug product to the ataxic patient.


What are the goals for the project for the next three years?

The goals for the project for the next three years include the completion of the pre-clinical regulatory phase to evaluate the toxicity and safety of the drug generated. This phase is already underway and the results to date are excellent.

We aim to request the designation of an orphan drug to the European Medicines Agency (EMA). We will need to develop the gene therapy drug in GMP conditions to assure high quality standards from good manufacturing practices applicable to the manufacture of drugs for the use of clinical trials in patients.

Once all these steps are successfully executed hopefully in the next three years, we will be able to start clinical trial in patients with Friedreich's ataxia.


How important are days like Rare Disease Day in bringing awareness to diseases such as Friedreich's ataxia?

Each year hundreds of organizations from all over the world representing patients with rare diseases work on a local and national level to raise awareness for the rare disease community in their countries.

Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

If, as a consequence of awareness campaigns, greater and better resources and efforts are dedicated and implemented to their management from both public and private agencies and institutions, we could then consider it a great success.

Unfortunately, the scenario of rare diseases, despite its significant improvement in recent years, is less optimistic and there is still a need for more and better support.


What more can we do, as a society and as individuals, to spread awareness about rare diseases?

A new campaign is being carried out to establish 2019 as the official European Year for Rare Diseases, with the aim at bringing a better quality of life to all people with rare diseases and their relatives. Associations are doing this by helping patient groups to network, supporting research into treatments and the social impacts of rare disease, and raising awareness to try and influence policy decisions.

They work hard trying to emphasize the importance of treating them just as seriously as more common diseases, and in particular they want to reach out to policy makers in governments across Europe so real change can be achieved for rare diseases.

As individuals, we would need to consider ourselves as patients with a rare disease in order to place ourselves in their positions and understand their suffering and impotence when dealing with their disease. If we are capable of doing so, I am sure rare diseases will become more manageable and less unknown.

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