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Beyond development: Overcoming market access challenges for rare disease treatment

To mark Rare Diseases Day 2024, Gillian Molloy, director of market access at AscellaHealth, discusses the current state of play in the rare diseases treatment landscape and provides key tips for drug developers to overcome market access challenges.

Emphasising a significant global unmet need, the Rare Diseases Research Landscape Project Report, released in September 2023, found that only five percent of the 475 million people worldwide affected by a rare disease have access to treatment, often due to a lack in co-ordinated approach.

Bringing any new treatment to market can be challenging, risky and costly. This is exacerbated further when it comes to therapies for rare and orphan diseases.

While the need rings loud and clear, their aetiology and low prevalence make the crucial components of demonstrating safety, efficacy, and cost-effectiveness difficult, rendering traditional drug development processes unviable. Add to this a gap in the widespread understanding of these treatments, and the associated high-costs massively exceeding healthcare provider budgets, and the road to getting your treatment approved, paid for and made available to patients becomes harder to navigate.

A promising new treatment landscape

It is important to say here that it’s an exciting time to be working in this field. Drug and therapy development for rare diseases is advancing quickly, particularly in the cell and gene therapies (CGTs) space.

In fact, in our forecasted specialty pharmacy market trends for 2024, AscellaHealth identified the significant strides in the development and introduction of CGTs for orphan and rare diseases as a major transformative change for the healthcare market globally.

The CGT market has witnessed rapid growth, innovation and investment over recent years. It’s expected to reach USD 82.24 billion in value by 2032, with approvals for new therapies increasing year-over-year. 

Why is this exciting? Well, CGTs expand the treatment possibilities for patients with a widening scope of rare and orphan conditions—many of which are genetic in origin. Conventional treatment plans for the majority of patients have mainly focused on managing lifelong symptoms, rather than being disease modifying or curative. For the first time, there are now means to treat the cause of these conditions, and in many cases cure them altogether.

But, CGTs add another layer of complexity to the market access challenge because of their extremely targeted nature and the multiple intricacies that come with their development. Manufacturing, logistics, distribution and safety pose challenges, and lack of venture capital (VC) funding means that some developers find it hard to raise the capital needed to make their ambitions reality. 

Realising the full potential for CGTs and other rare treatments in the market could be completely life-altering for patients and their families.

This is why improving access to effective drugs and therapies for rare and orphan diseases is a key goal across the rare disease community, and something that AscellaHealth is supporting drug developers with across the US, UK and Europe.

What are the key considerations for market access?

There are a number of steps that developers can take to increase the likelihood of market access success. Starting with developing a process-driven strategy for every phase of the market access journey.

1. Think about market access from the beginning.

Planning for market access should start at the earliest stages of ideation while establishing proof of concept and conducting research and development—even prior to clinical trials.

Developing a market access strategy means implementing a plan for each element that could drive the uptake and commercial success of your product.

It’s important to recognise the wide range of stakeholders who have differing priorities. You will need to consider how you address each of them. The information you need to provide to different stakeholders may vary, and the requirements you need to meet for each certainly will.

Remember that everything is scalable. It’s not necessary to have a full team working on market access and commercialisation from the early days. Just one individual/partner driving the plan will be sufficient. As you progress and confidence increases, you can build resources in this area accordingly.

2. Build a compelling value story

What you can tell the market about your product specifically will be limited until the product is approved. However, what you can do is build a brand for your company as an entity for the disease concerned. 

Your value proposition can focus on raising awareness of the unmet need and how you are committed to addressing that need. By highlighting awareness of the rare disease that your product will help to treat, you will develop an identity as the go-to source for understanding its challenges, treatment, patient access and payer needs. 

Lack of available clinical trial data is one such area that needs to be addressed, due to smaller population numbers for rare conditions combined with European data regulations making it harder to evidence successes.

Due to the small patient populations, organising clinical trial data that covers a range of patients from different backgrounds is also challenging, and often people will miss out on being invited to participate in trials due to disparities in diagnosis and awareness. Medical expertise and treatment administration is often clustered to specific centres, potentially making it difficult for some patients to access specialist care. 

There is some positive work being done here to increase the amount of data available on rare diseases to better target care. The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) in the UK, for example, has committed to improve the quality, coverage, completeness and transparency of national rare disease registration data. This includes increasing data submissions for people with rare diseases through a new web-based reporting system, and exploring how NCARDRS and NHS DigiTrials—which provides secure data about people’s health and care to researchers for clinical trials—can work together to improve findability of rare disease patients for suitable clinical studies. 

Real-world evidence, i.e. data obtained outside of a clinical trial, is essential here and you can enrich this by linking up with patient advocacy groups and engagement platforms. Such evidence will enable you to develop a more longitudinal standpoint, map out the patient journey and build a wider benefits story that focuses not only on the mechanism of action but also other factors such as lifetime spend.

3. Identify the patient population size

This takes some work, not least because some of your patients may also be included within another disease state. As your journey progresses, the initial identification of those who will use your product may vary significantly from reality, due to a reduction or increase in the size of the suitable patient population.

By allowing sufficient time for the appropriate clinical trials and regulatory applications to be carried out, you will have more scope to adapt accordingly and manage impact on future revenue streams.

4. Solving the high-cost dilemma for payers

Although initiatives, like the Innovative Medicines Fund (IMF) in the UK, have been set up to fast-track promising treatments, patient access remains a challenge. Cost is still a major factor, especially for the UK and Europe’s publicly funded healthcare systems. 

Treatments for rare conditions, and CGTs in particular, are highly targeted and therefore highly complex to manufacture and administer. Such complexities translate into even higher costs.

While CGTs hold immense potential for treating patients with rare and debilitating conditions, even if a treatment makes it through the hurdles of development, clinical trials and regulatory approvals, there is still no guarantee that it will reach the patient.

CGTs for example can cost into the millions for a single dose. Accessing and administering CGTs on already stretched budgets creates a high-cost vs high-impact dilemma that goes against the conventional multi-treatment patterns that healthcare providers are equipped to deal with.

While they may come with a high price tag, rare disease treatments often deliver high value in the fact that they can be complete game-changers, with disease-altering potential. Despite the high-upfront cost potentially being offset over time when compared to life-long symptom management, the price tags are enough to cause a system shock and reimbursement decisions are unfortunately not automatic, no matter the curative potential of the treatment.

Healthcare providers are increasingly under pressure from patients and their families to make treatments available and this can burden the whole system. It’s important to partner with a global services provider, such as AscellaHealth who understands the challenges of the rare disease space, to ensure your therapy gets in the hands of the patients who need it most.

5. A patient-centric approach

When seeking to bring a treatment to market, it is important to design a programme where patients can get seamless access to therapy. Manufacturers should put the patient as the central focus of their go-to market journeys and “walk in their shoes” to anticipate all of the barriers these patients face in accessing treatment and address these challenges at every touchpoint in the product life cycle.

Those bringing rare treatments to market also need to consider the fragmented nature and requirements of different healthcare systems in multiple countries. This, however, will likely become less complex as the market progresses, thanks to important upcoming changes to processes such as the joint clinical assessment in the EU.

The impact

The ultimate potential impact of rare and orphan treatments being made available to patients is transformative.

But, often, these therapies are developed by smaller manufacturers or research teams who have discovered the potential of a particular molecule or application. Compared to larger pharmaceutical companies, the resources and market access expertise of these teams are stretched to the extent that they risk spreading themselves too thinly by trying to do everything.

The solution

Luckily, there are experts with end-to-end commercialisation solutions like AscellaHealth, who have deep-rooted experience in helping life-changing therapies get from inception to patient—including market access, launch, exclusive distribution, international fulfilment, outcomes tracking and actionable data and analytics for programme optimisation and launch success.

A practical approach is to gain help and support from specialist teams like ours, who understand the rare and orphan disease product development landscape and can spot challenges and opportunities for you and lay the foundation and pathway for success. Because of the number of stakeholders and steps in the commercialisation life cycle, collaborating with a partner who has end-to-end expertise of all milestones can be hugely beneficial for CGT teams and help to realise the full and transformative potential of these therapies.

You can download AscellaHealth’s A Guide to Bringing your Rare Disease Product to Market here:

Gillian Molloy is director of market access at AscellaHealth. For more information about partnering with AscellaHealth, visit:



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