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Access to medicines: Solving the challenges to ensure people with rare conditions can access vital treatments

Sheela Upadhyaya, accelerated access review, relationship delivery lead and Highly Specialised Technologies (HST) programme specialist at the National Institute for Health and Care Excellence (NICE), shared with us her advanced understanding and experience in rare and orphan disease healthcare services. 

In this interview Sheela passionately discusses the recent, and very exciting, revolution in orphan drug development and innovation. ​

Headshot of Sheela Upadhyaya
Sheela Upadhyaya

She shares her knowledge on the biggest challenges individuals living with rare diseases face when accessing treatment and highlights the power and influence of multi-stakeholder collaboration to improve equitable access to medicines for everyone. 

Sheela has been a commissioner and an evaluator of technologies in rare disease for over ten years and has been working at NICE for over five years, starting as the associate director for the HST programme, which involved evaluating new drugs and technologies for rare diseases. Sheela’s primary job title now is the HST specialist. 

Q. Sheela, what do you think has caused the recent revolution in orphan drug development?

“Primarily, I think the greater awareness of rare diseases promoted by patient groups, charities, organisations and publications, much like RARE Revolution Magazine, has helped hugely, particularly in the last ten years when they have become more vocal,” Sheela explains. Sheela believes that this increase in awareness through various outlets goes hand-in-hand with recent scientific advances in rare disease, including new drug developments, innovative technologies and particularly new gene therapies. These scientific developments are then supported by the Orphan Drug Legislation, the Government’s Life Sciences Industrial Strategy and Life Sciences Vision, and Rare Disease Framework which are providing greater awareness and a better landscape for new drugs and technologies to be developed. Sheela believes that all these things in combination is what has generated acceleration in the number of orphan drugs we are seeing today.

Q. What are the biggest challenges for people with rare diseases in accessing treatment?

There needs to be more done to ensure we are doing everything we can to get the right evidence, in the right way, that tells the right story. 


Sheela believes one of the biggest challenges lies in generating evidence. Sheela explains that because people with rare diseases often have multiple comorbidities, there is also a lack of understanding of the natural history of the disease and generating the right evidence, showing efficacy, effectiveness and what the treatment is really doing for the individual is incredibly challenging. With a lack of robust evidence-based research comes the risk of long-term consequences for patients and families who go ahead with the treatment. “There needs to be more done to ensure we are doing everything we can to get the right evidence, in the right way, that tells the right story,” Sheela explains. 

A second challenge raised by Sheela was the cost of the treatments: “There is a fixed budget in the NHS, it does not increase every time we add another medicine—we hold a responsibility to look at the rare population, but also support the wider population and make decisions as fairly and equitably as possible.”

Challenges in clinical trial recruitment and configuring data with low patient populations:

A further challenge affecting access to treatment is clinical trial recruitment and configuring data with low patient populations. Sheela discusses several key issues which must be considered:

1. designing the right trial 
2. trying to identify the right data 
3. translating that data into a meaningful output
4. achieving a balance between recruiting enough patients to collect the data whilst leaving enough to secure a return on the investment made to bring the drug to the market

Q. Sheela, how can multi-stakeholder collaborations improve equitable access to medicines for everyone? 

I am a firm believer in collaboration.


Sheela believes collaboration is the best way to understand everybody’s perspectives and where interests align. “By working together, we can identify approaches and solutions and unpack what each stakeholder’s biggest challenges are, and also appreciate each other’s policy constraints and intricacies,” she explains. Sheela believes that if each stakeholder were more transparent about their unique constraints, they could help one another more. However, this requires a level of trust that has yet to be achieved: “If we could build trust through collaboration, we could start to form solutions and, with wider knowledge on what needs to be achieved and an appetite for change, perhaps we could even influence policy positions to change.”

Q. Looking to the future, what are your hopes for equal access to treatment? 

Getting the right treatments to the right patients at the right time is of fundamental importance for Sheela. 

“I am pleased to say that NICE is taking positive steps to finding different approaches and actions to respond to the needs of rare disease patients”, Sheela explains. The current methods review that is being untaken by NICE is focusing much more on equipping committees to be more flexible and adaptable where rare disease treatments are being evaluated. For example, helping them understand and prepare for potential uncertainties in the evidence because of the nature of the disease. The Innovative Medicines Fund, which has been announced recently, is also going to provide an opportunity to secure access to treatments in the short term while further data is being collected.

We know that due to our exit from the EU our drugs market is now smaller on the global stage. However, as a country, we are still very strong with a thriving life sciences sector. We must not forget that we have a brilliant foundation to build from—not a lot of other countries have. We should be proud of that.

​Sheela Upadhyaya 
Q. Is there anything you would like to say to any families reading this who are currently facing these challenges?

“You are the most important people in this equation; you add huge value to everything the healthcare ecosystem does. Anything you can do to share your experiences to tell us how things are for you is highly valued. If we can start to unpack that story from you as patients and families at the coalface then we can start to really get to grips with understanding what information we need to generate, where we need to generate it, and what it will mean to individuals with rare diseases. Remember, you and all those living in England are important to us and the system needs to make sure we are serving you, as well as all our patients in the healthcare system as a whole.”

Charity Perspective – Jo Balfour, Managing Director – Cambridge Rare Disease Network 

”Sheela emphasises that collaboration and transparency are key to unlocking the potential for orphan therapeutics to reach patients more efficiently. We agree and are finding ways to ensure this at Cambridge Rare Disease Network. Through our events and Companies Forum we bring together industry professionals involved in all stages of the drug development pipeline – from major pharma to smaller biotechs, CROS and medtech.

​ In these meetings we invite regulators and other experts to talk to companies about new initiatives in rare disease drug development such as the Innovative Licensing Access Pathway, Early Access to Medicines Scheme and the Accelerated Access Collaborative. 

It’s a safe space for them to ask questions, to get to grips with the opportunities, expectations, and limitations of these initiatives and to speak openly about the unique challenges for them in developing treatments.

Jo Balfour

We’re increasingly inviting patient groups into our Companies Forum to share their views and unmet needs with industry. We’re moving towards a new model of industry and patient group partnering to develop the trust that Sheela speaks about to achieve the best outcomes for patients, by developing these transparent and trusted relationships and embedding the patient voice into the drug development process early on. ”

​These links are to third party, non-Alexion websites:

For more information about the Cambridge Rare Disease Network please click the logo and the button below:

Cambridge Rare Disease Network is a platform for change. It is the infrastructure that unites patients, advocates, experts, and leaders to address the challenges faced by people affected by rare diseases. By sharing knowledge and experience, and working together, the journey towards better diagnosis, treatment and support for patients and their families is smoother and more certain.

For more information about NICE:

Date of preparation: August 2021
Document No: UK/NP/0012

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