Accessing cell and gene therapies – meeting the needs of rare disease patients - Thoughts from the Centre | Deloitte UK

By Lukasz Kaczynski, Senior Manager, Monitor Deloitte Switzerland, and Patricia Gee, Director, Monitor Deloitte Switzerland


February 28 2021 is the 14th International Rare Disease Day. To mark the occasion communities from across the world come together to raise awareness among the public and policy makers about rare diseases and their impact on the lives of patients and families.1 Rare diseases are heterogeneous in nature, and geographically disparate, few are preventable or curable, most are chronic and progressive, and many are life-threatening. While there is no universal definition of rare diseases, in 2019, a comprehensive research study of the Orphanet database2 estimated that there are some 6,200 rare diseases affecting some 3.5 to 5.9 per cent of the global population, a total of approximately 263 to 446 million people. Around 72 per cent of these rare diseases are genetic with 70 per cent starting in childhood.3  Today, transformative cell and gene therapies (CGTx), with the potential to address and often eliminate the underlying cause of a genetic disease, bring hope to patients and families affected by rare diseases.

The curative promise of CGTx

Cell and gene therapies involve extracting cells, protein or genetic material (DNA) from the patient (or a donor), and altering them to provide a highly personalised therapy. Gene therapies work by repairing or replacing a faulty or missing gene, cell-based therapies rely on modifying both genetic material and cells. For example, some new cell therapies for cancer involve extracting and re-programming a patient’s immune cells called T-cells, and re-programming them to make them better at detecting and killing cancerous cells.4 These innovative therapies are aimed at addressing the underlying cause of a disease rather than treating the symptoms. For example, gene therapies that deliver a replacement copy of a gene have proven to tackle the root cause of life-threatening genetic disorders such as spinal muscular atrophy (SMA).5 SMA affects as many as 10,000-25,000 patients in the US alone5 and leads to pre-mature death in case of severe SMA disease type 1. This is just one out of many rare diseases that CGTx has the potential to treat in the future.

Currently, there are more than 650 CGTx in Phase II of clinical development or beyond (see Figure 1), and up to 20 of these complex and often expensive therapies are expected to enter the market each year from 2025 onwards.7 However, while the patient, medical and scientific communities are enthusiastic about the curative potential of CGTx, there are still significant barriers to realising broad access to these innovations.

Figure 1. Global Gene Therapy pipeline by clinical phase (excluding Phase IV and single subject trials)

Global gene therapy
Source: Journal of Gene Medicine, 2021 John Wiley & Sons.8

Key market access challenges affecting the commercialisation of CGTx


Given the innovative and sophisticated nature of CGTx, critical access challenges arise in launching and marketing these therapies, including:

  • Limited patient population: rare diseases by definition affect only small numbers of the population, making it challenging to identify the appropriate and relevant patient population. This has direct implications for clinical development, as pharma companies can only run small and/or single arm clinical trials to test these therapies. This also makes it more difficult to measure the size and value of clinical and economic impact of such specialised treatments.
  • High price: CGTx provide a more precise, personalised and often one-off treatment. While they offer a potential cure or long-lasting health benefits, they involve substantial R&D, manufacturing and transportation costs making them much more expensive than traditional drugs, and typically means large up-front costs for payers. Indeed, CGTx, costs can sometimes reach multi-million dollar figures for a single patient. To measure the true clinical, economic and societal value of CGTx, new value drivers such as long-term medical expenditure avoidance, increased lifetime productivity, healthier aging populations are required, considerations not currently established among payers.9,10
  • Unprecedented time horizon: as clinical outcomes from CGTx will only emerge over the coming years and decades, payers are reluctant to pay for therapies for which they cannot see immediate effects. Current methodologies (particularly for cost-effectiveness assessment) have yet to be adapted to account for the long-term nature of CGTx’ benefits.
  • Undocumented efficacy: the limited datasets available when launching CGTx mean there is a high uncertainty among payers over the promised long-term efficacy of treatments. It is important to know whether the patient will continue benefiting from the therapy many years after the treatment. Additionally, there are no established surrogate endpoints for many rare diseases, making it more difficult to capture, measure and link this evidence to the patients’ clinical outcomes.

The challenges above generate complex and lengthy discussions between manufacturers, regulators and payers, resulting in delays in patient access (see Figure 2) to these innovative and life-saving therapies. There is a need therefore for manufacturers, regulators and payers, as well as governments and NGOs to intensify their efforts to break the barriers to CGTx treatments to provide access for many rare disease patients and their families.

Figure 2. Average time to availability for innovative medicines across Europe (2015-2018), in days

Average time
Source: EFPIA.11

Six recommendations to successfully bring CGTx to market today

Having supported multiple large pharma and small biotech companies navigating the market access for their CGTx therapies, we have identified six recommendations that could help optimise the odds for success in achieving market access:

  1. Shape the access for your therapy by engaging as early as possible with regulators and payers: engaging early with key stakeholders to jointly agree and manage expectations of the evidence package needed to minimise access challenges at launch.
  2. Establish an early, comprehensive, evidence generation plan aligned to payer expectations: understand the value drivers of the therapy even prior to Phase I / Phase II and develop an evidence generation plan beyond regulatory approval, laying out how surrogate endpoints will lead to clinical outcomes.
  3. Focus on your value proposition, not data limitations: concerns over the small sizes of clinical trials are not so relevant, as none of the other CGTx developers are likely to have statistically significant sample sizes. Additionally, regulators and payers are becoming much more used to small sample sizes within the rare diseases space.
  4. Understand and account for the end-to-end economics: alternate economic modelling is needed to capture the whole value of the therapy, as considerations around manufacturing, supply chain and patient services may add significant costs that need to be accounted for.
  5. Plan for innovative contracting solutions as your base case scenario: as traditional payment models do not fit CGTx characteristics, plan for innovative contracting solutions as part of the offering and value proposition from the start and consider practicalities (data sources, 3rd party partners, IT infrastructure, processes, etc.) to establish implementable solutions.
  6. Do not assume payers’ interest in the innovative scientific character of the therapy: the innovative nature and impact potential of CGTx raises the tendency to focus on the scientific promise of these therapies. It is the evidence package and (post-approval) real-world evidence generation plan tailored to payers’ expectations what matters to payers.

While these recommendations could apply to all therapies, and are based to an extent on what constitutes good practice for biologics, they are particularly relevant in ensuring that those patients who would benefit from CGTx are able to access these therapies.

A hopeful future - Increasing access to CGTx for rare disease patients

Despite access challenges, life science companies are trailblazing this complex regulatory and market landscape and finding novel ways to collaborate with regulators, payers, patient advocacy groups and new entrants. Together, players in this ecosystem need to continue to incentivise scientific advances and access to innovative therapies while identifying solutions to overcome constraints by continuing to ask:

  • How can health systems finance the growing number of CGTx?
  • What standards and infrastructures are needed to industrialise and decrease costs to develop CGTx?
  • What is an acceptable price level for industry developers but also for payers, governments and societies that would enable more inclusive access to CGTx?

Stakeholders across the healthcare ecosystem are already working to find solutions to these questions. This year’s Rare Disease Day provides further impetus to extend everyone’s understanding and appreciation of the role that cell and gene therapies could play in providing the potentially life-changing solutions that the rare disease community of patients, their families and healthcare professionals have been waiting for.



Patricia Gee, Director, Swiss Consulting

Patricia Gee is a director with 18 years of life science experience dedicated achieving sustainable value, growth and innovation across the health ecosystem. She joined the Monitor Deloitte team in 2015 and focuses primarily in customer and commercial growth strategy. Prior to joining Deloitte, she held several Global and regional commercial leadership roles at a large pharma, worked in capital markets fund raising and investor relations in biotech and has an MBA and MS in Public Health Policy & Economics.

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Lukasz Kaczynski , Senior Manager, Swiss Consulting

Lukasz has more than seven years of international strategy management experience: from strategy development and commercial due diligence through large scale commercial transformations to cost-cutting/reorganisations. Lukasz specializes in strategy, sales & marketing and has experience in large commercial transformation projects. Lukasz is a resilient, well balanced and authentic leader with strong analytical and relationship building skills. He is focused primarily on life sciences industry (Pharma and MedTech) and has worked across multiple geographies: Switzerland, Poland, Belgium, Denmark, UK and Sweden.

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