First known as AveXis, Novartis Gene Therapies leads the development of gene therapies for neurological diseases. Can you give us a brief overview of the history and evolution of the company since its establishment in 2013?
Novartis Gene Therapies is a young company that was established in Spain and the rest of Europe about two years ago. The Spanish subsidiary was founded in 2019. We have been operating for a year and a half, and I have been in this position since the beginning. We are part of the Novartis group. As a matter of fact, the change in the company's name is to reflect this change. We are a company of the Novartis group that specializes in gene therapies on the platform AAV9, which is the platform of virus associated to serotype 9. For us, it is extremely important to have the backing of the Novartis group, while we have a light structure that allows us to remain agile in our operations.
What main challenges have you faced since you took up the position?
The main challenge and opportunity was to build up a company from scratch. We are building a subsidiary of a multinational from the ground up. We are talking about biotech firms that can operate with few workers and attain solid results. That initial part of establishing the company, approving the prices, and obtaining all the certificates required is a long process. That was the main challenge and opportunity, because it required a great deal of work. We are only seven workers in Spain, and this has been a beautiful story.
How has the pandemic impacted Novartis Gene Therapies?
From a human point of view, the impact is obvious; it has resulted in working in solitude. My team is in Europe, and my team in Spain is spread across different cities. We had an online working environment established before the pandemic, though this was intensified by 100% when the pandemic occurred. It was challenging, because the expectations of return to normal were not happening, so there was some frustration from a human point of view, and that requires some management work. The probability of delays in all the administrative processes with all the health authorities is high. Right now, their entire focus and resources are on finding a solution to the problem and recovering from the crisis. It is unfair for the patients of these pathologies and for the effort in innovation; however, the circumstances inject a potential delay to bring the medicine Zolgensma to all the patients who need it, which is our absolute priority.
Zolgensma is the first gene therapy-based treatment for spinal muscular atrophy and is pending commercialization in Spain. This is actually the treatment that received the award. How is the process of commercialization evolving?
The process is ongoing; we have submitted it to the authorities and are waiting on all the approvals. We have a spirit of 100% transparency with the ministry and the autonomous communities to reach an agreement as soon as possible. Zolgensma was approved by the EMA in May 2020 and now all the European countries have their individual approval processes. It was approved in the US one year earlier.
The company is developing other innovative therapies for rare neurological diseases such as Rett Syndrome. What treatments are you focusing on?
We are focused on AAV9 scientific platform, identifying different target diseases that could potentially be treated with these therapies. We have been speaking about gene therapies for decades; we have talked about them as a future, something that is to come. The challenge of gene duplication was achieved decades ago. The current challenge was how to take the gene to the target organ, make it start “working”, and maintain the effect in the long term. We are proud to have transformed that future into the present. The disease we are treating, spinal muscular atrophy, is a severe and debilitating disease. Children with the most severe type of this disease do not live more than two years if they are no treated without being able to move their heads or their bodies their entire lives. The big challenge for families with children with this disease is to keep them alive. There has been a new treatment recently, but there are still many uncovered medical needs. Then, Zolgensma was developed. It only requires a single dose during the patient's lifetime and takes one hour to administer. In that hour, we introduce millions of capsules of AAV9 with the gene they are missing. With a single dose, the required protein starts to be produce, and in this case it depends on the severity of the disease. If a diagnose is quick, a single dose in a lifetime can help a patient become a healthy person. This is a model of gene therapy and is truly incredible. Based on this same platform of AAV9, we have selected the focus of our investigation area, namely two pathologies: Rett syndrome, which is also a neurodegenerative disease, and Friedreich's ataxia, which is also a neuronal disease that affects children.
Novartis Gene Therapies has received three prestigious international awards for its contribution to research and innovation in rare diseases: The Pharma Awards Europe 2020, the Theron Technology-Enabled Award, and the Rare Impact Award. What do they represent to the company?
These awards are extremely gratifying to the company. It is a risky situation, compared to working with known platform. It also represents the risk of working with diseases with a low prevalence. Some of these diseases have only 300 patients in Spain, and some of them have a lower prevalence. That recognition of that exercise of courage is extremely rewarding.
How has the pandemic affected patients suffering from diseases with a low prevalence?
On the one hand, for those that have yet to be approved by the public sector, it will take time for patients to access treatments. On the other hand, patients with an approved treatment face the issue of fear factor. These are vulnerable patients who have to go to the hospital regularly for treatment. Now, with the pandemic, there has been a delay in the treatment of patients because there has been a collapse in the public health system.
What are your expansion plans?
We have to commercialize the treatment first. Once we launch it, our goal is to treat all patients who could benefit from gene therapy. We will evolve with other products for Rett syndrome and Friedreich's ataxia. The challenge is that there are so few experts in these diseases and only a few in Spain.
What are your main goals, and where do you want to see the company in 2021?
I would like to see the company launching the product for patients in April; that is the goal. Another important goal is to establish a test for newborns because that helps with the early diagnoses of diseases. There are seven diseases included in tests for newborns, and the list of this changes among autonomous communities.