How do we solve the rare disease crisis?

Pfizer often made the headlines over the past year after mobilising their scientific expertise and manufacturing capabilities to respond to the COVID-19 pandemic. Reda Guiha, Regional President for Rare Disease at Pfizer, argues that the same sense of urgency and public-private sector collaboration that brought vaccines to patients within a year should be applied to other areas of critical unmet medical need, such as rare disease.
Source: Adobe Stock

By Pfizer

27 May 2021

YOU’VE FRAMED THE ISSUE OF ACCESS TO RARE DISEASE CARE AND TREATMENT AS A CRISIS, WHY IS THAT? 

Rare diseases affect 30 million people across Europe, yet huge challenges remain: a diagnostic odyssey, lacking treatments and access to quality care, and invisibility in the healthcare ecosystem. Four in five rare diseases have a genetic origin, which inevitably means that it’s children who are affected. One in three of these children will not make it to their fifth birthday. This is unacceptable. If we are to change this, we need to match scientific innovation with equally innovative policies and regulations, and there is a lot of work to do here.

HOW HAS THE COVID-19 RESPONSE CHANGED YOUR VISION FOR RARE DISEASE?

Before the pandemic, our expectations were that drug development had to be a very long process, with everything happening in series rather than in parallel. From the lab, to clinical development, to the submission of regulatory dossiers, to pricing and reimbursement, to manufacturing and distribution, to finally treating patients and the ongoing follow-up process. Everyone accepted that it took around 10 years. Yet, in the past year, we’ve proved it can be significantly expedited, without compromising patient safety. Our concept of agility in responding to urgent patient need has changed forever and I want to apply these learnings to expedite access to diagnosis, care, and treatment of rare disease.

“Our concept of agility in responding to urgent patient need has changed forever and I want to apply these learnings to expedite access to diagnosis, care and treatment of rare disease”

WHAT WORKED WELL DURING THE PANDEMIC THAT COULD MAKE A BIG DIFFERENCE IN HOW WE TACKLE RARE DISEASES?

Public-private sector collaboration was critical. The speed of Pfizer’s development of the COVID-19 vaccine was only possible because we worked in lockstep with regulators and health officials to accelerate and adapt our processes to the new realities of operating during a global health emergency. Unprecedented engagement from regulators meant dramatically reduced timelines for clinical trial protocol review and delivery of scientific advice. Gathering real-world evidence (RWE) to confirm effectiveness of COVID-19 vaccines was also critical. In my opinion, we need new industries and partnerships focused on collecting RWE, especially when approaching this new era of novel gene therapies. RWE has vast potential to mitigate uncertainty and address limitations around the availability of long-term safety and efficacy data, particularly after gene therapy administration.

WHAT’S THE PARTICULAR SIGNIFICANCE OF GENE THERAPY FOR RARE DISEASE PATIENTS?

Gene therapy is an emerging area of medical research focused on highly specialised, potentially one-time, transformational treatments addressing the root cause of genetic diseases. With the potential to provide long-term or lifelong benefits, gene therapy raises the need for new access and affordability frameworks, particularly those that connect reimbursement pathways with real-world outcomes. This means we need to reimagine the way we think about healthcare provision. We must urgently work to resolve cross-border healthcare issues to allow the necessary care, coordination, and long-term follow-up that gene therapy will require. We must also identify EU-specific barriers and find solutions, such as annuity-based payment models, that aim to address affordability challenges for cell and gene therapies but are currently hindered by EU accounting regulations.

WHAT ELSE DO WE NEED TO DO TO IMPROVE ACCESS TO INNOVATIVE TREATMENTS FOR RARE DISEASE PATIENTS IN EUROPE?

I believe access is a journey that starts in the lab. The EU’s Orphan Medicinal Products (OMP) Regulation has been phenomenally successful in bringing new treatment options to patients since its inception in 2000. However, I am concerned by the latest proposals from the European Commission to amend this legislation as it is crucial to preserve the delicate balance of incentives created by the OMP Regulation so as not to jeopardise the progress we have made. We therefore support the call of numerous stakeholders and governments for the establishment of a High-Level Forum where access and availability issues can be identified and addressed in an inclusive environment. It would be a decisive step towards safeguarding medical innovation for tomorrow while securing sustainable healthcare systems in a globally competitive Europe today.


Click here to read more about a recent call from the Alliance for Regenerative Medicine (ARM), the European Federation of Pharmaceutical Industries and Associations (EFPIA) and the European Association for Bioindustries (EAB) to the European Commission, together with national competent authorities, to exempt advanced therapy medicinal products (ATMPs) containing or consisting of genetically modified organisms (GMO) from the European Union GMO legislation.


“With the potential to provide long-term or lifelong benefits, gene therapy medicines raise the need for new access and affordability frameworks, particularly those that connect reimbursement pathways with real-world outcomes. This means we need to reimagine the way we think about healthcare provision”

WHAT HAS THE PANDEMIC TAUGHT US IN TERMS OF IMPROVING HEALTH EQUITY FOR THE MOST VULNERABLE PATIENTS?

A recent survey showed that COVID-19 disrupted access to care for 83 percent of rare disease patients.* Many patients don’t have time to wait and we owe it to this underserved community to take the learnings from this pandemic and apply them, where relevant, to expedite access to innovation at all stages of the journey - from the lab to patient follow up.

Like COVID-19, for many rare diseases we are starting from a position of very limited data, so we must learn as we go, guided by the science. The extraordinary mobilisation across the private and public sectors to address the pandemic has set a new standard and reminded us that life science innovation does not happen in a vacuum. I’m re-imagining a new future for rare diseases, post-pandemic, where the same spirit of urgency and political will heralds a new era of unprecedented collaboration, placing the needs of rare disease patients at the top of the agenda. 

*Source: EURORDIS. How has COVID-19 impacted people with rare diseases. [Online]. Available at: covid_infographics_final.pdf (eurordis.org). Last accessed: May 2021


Click the link below to watch 'Insights on Gene Therapies - Interview with Martin Schulz (Pfizer)'.


About Reda Guiha

Having grown up in Lebanon and Egypt and having had the opportunity to live and work in the UK, Italy, US and France, I have witnessed first-hand the power of access to healthcare to change lives. I believe that if we want to engender peaceful and prosperous societies, we must strive to provide equitable access to medicine and quality care for all, as is the vision for Europe with the new EU4Health programme.

As a pharmacist by training, I have worked for multinational companies covering several therapeutic areas, mainly in the specialty disease areas such as oncology/haematology, rare disease, and vaccines.

Now, I am proud to lead a talented team at Pfizer Rare Disease across Europe, Eurasia, Japan, South Korea, Australia, and New Zealand. Together, we work to raise awareness of rare diseases with a focus on rare cardiology, neurology, haematology, and endocrine/metabolic disorders. Our goal is to ensure that patients are diagnosed and treated as quickly as possible, so they have the best chance to live full and happy lives as part of an inclusive society. I am the Regional President for International Developed Markets at Pfizer Rare Disease.

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