Cell and gene therapies transform the rare disease horizon. They hold the power to transform patient’s lives. Are we ready to deliver Advanced Therapies? Sheela Upadhyaya is an independent rare disease consultant who has eighteen years of experience in the rare disease arena. She discusses the challenges and opportunities involved, expressing that collaboration is the key to helping deliver them synergistically.
Sheela Upadhyaya
Sheela Upadhyaya, an Independent Rare Disease Consultant, spends her days liaising with all parties that form the rare disease arena. She has had exposure to every nook of the rare disease community from patients and their supporting organisations, highly skilled clinicians, policymakers, and pharmaceutical companies. Her mission involves anything and everything which supports and cares for those with rare diseases, aiming to better their lives.
Sheela is immensely equipped for this endeavour, having worn many hats. She has spent the last twenty-five years in the life sciences industry. Her journey into the rare disease community came to fruition by fluke when she applied to work a role commissioning rare disease service, primarily in Genetics and Metabolic, for the NHS. Sheela then moved on to lead the NICE Highly Specialised Technology Programme at NICE. The programme evaluates medicines and technologies for very rare conditions. Sheela was also instrumental in delivering a strategic response for NICE against the Rare Disease Framework.
Sheela quickly learned that rare diseases are immensely underserved, recognising a real need for listening to the needs of rare disease patients and their lived experiences. This need for empathy, transparency, and uniting perspectives inspired her to continue championing the rare disease community, to which she has now contributed for the last eighteen years.
“I pride myself in listening as much as I can to the needs of patients, their supporters, carers, and family members, so I can reflect that back in what I aim to deliver. But part of my role is also explaining why some things can’t happen.”
The Advancement of Rare Disease Therapies
Throughout her time working with the rare disease community, Sheela has witnessed the evolution of Advanced Therapies, or advanced therapeutics, which hold the power to transform the rare disease horizon. Advanced Therapies include interventions such as cell or gene therapies, which alter the molecular makeup of those with rare diseases, changing the expression or course of their condition. They focus on correcting the root cause of the disease as opposed to treating the symptoms. For many with rare diseases, they can transform what this means for day-to-day life and their future.
In the last five years, collaborative teams have made huge advances in innovating and successfully delivering these treatments to the rare diseases community. 2022 was a landmark year for such interventions, with Upstaza for AADC deficiency and Roctavian for Haemophilia A making their way into healthcare provisions. However, as the gene therapy field continues to advance, significant challenges remain, from their safety and efficacy to their accessibility and the suite of logistical considerations involved in their delivery to their recipients.
The healthcare system isn’t always ready to receive new therapies with complex storage, staffing, and infrastructural issues which may be unique to every new treatment, at each step. The healthcare system must shift and adapt to this each time, which is a huge challenge.
“To give an analogy concerning a single issue, storage: how many fridges is a hospital expected to have for each of these therapies, which may each have different storage requirements, which might only be for one or two patients?”
Collaborating for Successful Delivery
Though gene and cell therapies have become available to small, select groups of rare disease patients, 95% of rare diseases still have no therapies available to them. Sheela highlights how meaningful collaboration with patients is instrumental to developing new therapies and setting realistic expectations for how and why pre-existing therapies are delayed, aren’t widely accessible, or are not affordable. In short, “it is not as easy as it sounds, despite many parties with the same good intentions working really hard to deliver them for patients.”
As options for Advanced Therapies develop, the pertinence of these pressing challenges expands with them. Sheela expressed how collaboration between all stakeholders is necessary:
“For example, in returning to the fridge analogy, it is essential for pharmaceutical developers and manufacturers to consider the relevant infrastructural considerations. Without this approach, it would create unnecessary inefficiency in a healthcare system that strives to be as efficient as possible and whose efficiency is instrumental in delivering successful patient care. It goes both ways – those managing healthcare provisions must be open-minded in accommodating novel delivery approaches, which may change the status quo of how things have been done.”
For patients, Sheela describes how collaboration and transparency in raising the conversation about the stark challenges in implementing advanced therapies are essential for helping patients and their supporters orient themselves through layers of decision-making, the impact on their lived experience with their condition, and how they feel about these prospects.
Bringing Stakeholders Together
At Raresummit23, Sheela, alongside CamRARE Trustee, Emma Green, will host a panel discussion on Advanced Therapies, particularly navigating challenges and fostering collaboration for patient access. It is rare to see all stakeholders in a project represented, more so sat in physical proximity. The panel brings together an impressive wealth of experience and expertise which reflect the complex journey of Advanced Therapies’ innovation, development, delivery, and application. The panel allows for candidly discussing challenges with transparency, combining multi-stakeholder perspectives, and providing the most holistic approach to improving patient outcomes.
As Sheela knows too well, the science of Advanced Therapies is incredibly exciting, especially for patients. Collaboration is the key to helping deliver them synergistically:
“The hope is that anyone interested will leave with a better understanding of the layers of complexity: from innovation to pre-treatment activities, to their delivery in a healthcare setting, to post-treatment care. Each panel member will bring their own nuggets of insight and education we’ve not heard before.”
“While we should celebrate that progress is being made to deliver these important medicines to patients, we acknowledge that there are still challenges in the journey ahead. Our objective is to foster collaboration, raise awareness of the complexities, and pave the way for a future where patient access to Advanced Therapies is seamless, equitable, and life-changing.”
Join Sheela, Emma, and the panel for this dynamic discussion at RARESummit23. They are solving challenges through collaboration.