November 2023 • PharmaTimes Magazine • 30-31
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Rare chance
The difficulties of identifying and treating rare diseases
Across Europe, approximately 30 million people are estimated to live with a rare disease – in other words, more than 5% of the population are affected by rare diseases and this doesn’t even reflect the families and caregivers who support them.
Rare diseases may be rare when considered individually, but put together, their societal impact is substantial. There are between 6,000 and 8,000 known rare diseases affecting people living in the EU and most are chronic, progressive, degenerative, disabling and frequently life-threatening.
It is especially daunting that almost 70% start in early childhood, affecting children’s quality of life, wellbeing and lifespan. So, how do we make sure these patients get the best care possible? It requires a coordinated and multidisciplinary effort to improve care for people with rare diseases.
There are two things from my perspective, however, that are vital to accomplish above all others: firstly, we need to work on developing new innovative treatments and secondly, we need to make sure those treatments find their way to the people who need them.
Discovery channel
Starting with the goal of developing new treatment options for rare diseases, one has to ask why there have there been so few options in the past. Traditionally, rare diseases were not top of the list for societies due to the relative low impact on the overall population.
With new advances in science and the digital revolution of the 21st century which has unlocked fast and cost-effective diagnostics, the appetite to meet the challenge of rare diseases has increased.
In the 1980s and 90s, countries implemented laws and regulations to foster rare disease research. Since then, the European Union (EU) has funded various research programmes – one of the more recent ones is the European Joint Programme on Rare Diseases (EJP RD), which was launched in 2019 and aims to ‘create a comprehensive’, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.
These developments are important steps in the right direction, yet the fact remains that only about 5% of rare diseases currently have treatment options available in the EU. So, there still is a lot to be done.
Approximately 80% of rare diseases have genetic components and therefore, this is the area we decided to focus on within Novartis Gene Therapies and where we think we can make the biggest impact for people affected by these often-devastating diseases.
Rare diseases and gene therapy are a natural match, due to the high proportion of rare diseases having a known monogenic (single gene) cause, which can potentially be addressed with just a single dose of treatment. The way gene replacement therapy works, is through the transfer of healthy DNA into a patient’s cells in order to correct a defective or missing gene. That way, we can help the body to directly fight diseases and alleviate the underlying cause of a disease, instead of just treating the symptoms.
There are 20–25 gene therapies expected to reach European market approval by 2030 – and I am sure there are more to come in the years beyond. The development of such gene therapies involves immense risk, investment and commitment.
Ultimately, I think the outcome of a one-time therapy that can reframe a disease and give children the life they deserve is worth every effort and we will keep focusing on this area of research and development.
Accelerating access
As researchers do their best to develop new treatments for rare diseases and are on track to make more breakthroughs in the coming years, there is a second vital factor to improve care for rare disease patients: getting new treatment options to patients, and fast.
The road to effective treatment of a rare diseases begins with their swift and early diagnosis, as a treatment can only be administered once the need for it has been established.
‘With new advances in science and the digital revolution of the 21st century the appetite to meet the challenge of rare diseases has increased’
A lot of rare diseases need to be treated as early as possible to avoid deterioration of the condition, but due to their rarity, healthcare professionals (HCPs) tend to be less familiar with rare diseases and how they present.
As a result, all too often, patients endure a lengthy and frustrating diagnostic journey that caregivers often describe as an “odyssey”, during which their condition may progress.
Thankfully, there are diagnostic tests available for some rare diseases that allow for faster diagnosis and treatment. A very effective way of diagnosing rare disease patients as quickly as possible is newborn screening (NBS).
In most European countries, NBS is routinely conducted at birth – via a little heel prick, a drop of blood is taken from the baby at hospital. The dried blood is then sent to a lab where it gets screened for diseases that have been included in the country’s NBS panel.
Sounds simple enough. But the issue is that not all rare diseases that can be screened for and have treatments available are being included in national panels.
There are vast differences between countries when it comes to the number of diseases that get screened for. In Sweden, for example, screening includes 26 diseases, whereas in the UK, babies only get screened for nine diseases.
To address these disparities, we need more international collaboration and harmonisation of newborn screening programmes across Europe.
One example for such collaboration is the SMA Newborn Screening Alliance, an alliance of patient groups, professional organisations and industry, which formed in 2020 to advocate for newborn screening in spinal muscular atrophy (SMA) across all of Europe.
SMA is a devastating genetic neuromuscular disease that leads to progressive muscle weakness and paralysis, and if left untreated in its most severe forms, can lead to permanent difficultly in breathing or death in 90% of cases by the age two.
Due to the progressive nature of the disease, it is imperative to diagnose SMA as quickly as possible after birth to ensure that the appropriate treatment and care plan can be decided and implemented before irreversible damage occurs – yet only about 45% of Europe cover screening for this disease to date.
This is why we advocate for equitable access to newborn screening for treatable rare diseases including SMA. Being part of an alliance that pushes for equal access to early diagnostic tests can provide children the best possible outcome.
Joshi Venugopal is General Manager and Head of Europe at Novartis Gene Therapies. Go to novartis.com
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