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Eight challenges in developing rare disease therapies

Bruno Montanari – Seroba Life
Daniel Lewi –
Cure & Action for Tay-Sachs (CATS) Foundation
Deb Lancaster – Genomics England
Emma James –Encoded Therapeutics Inc.
Kris Pierce –
Child UnLimited and SCN2A Australia
Nicola Redfern –
N J Redfern Ltd
Rebecca Stewart –RARE Revolution Magazine
Ross Cummings –
Gill Jennings and Every LLP


The diverse mix of participants in this RARE Revolution roundtable, with representatives from industry, advocacy, consultancy, intellectual property, finance and the media, was no accident. The landscape for the development of rare disease therapies is fraught with challenges, and solving these depends upon close collaboration between all stakeholders. We sincerely hope that the ideas shared here will prompt many more conversations and help to move us towards much-needed solutions.

As the participants explained, the high cost of drug development, restrictive market processes that vary by country and challenges around reimbursement can deter pharmaceutical companies and investors from investing in rare disease therapies in the first place. A perception that the commercial opportunity is too limited, given a low prevalence of the disorder, may be an additional deterrent. 

When companies do invest, the hopes of that community soar, but there are no guarantees that there will be a successful pathway for that product through clinical trials to regulatory approval and then reimbursement, and if the company later withdraws, the emotional impact on the community is enormous. 

A major takeaway from this roundtable is that the chances of a therapy becoming available to patients depends to no small degree on what is done early on. Biotech companies need to be more realistic in their financial planning, taking into account the limitations of available funding mechanisms and the potential benefits of a more diverse investment base, and considering the manufacturing challenges and the requirements of regulators and decision-makers/payers. They also need to plan for setbacks, including the potential that changes may be made to regulatory processes. Regulators, too, need to think about how current frameworks risk making it financially unviable for small biotech companies to develop rare disease therapies.

If a withdrawal is necessary, a company must do whatever it can to soften the blow for the community concerned, prioritising open communication and a commitment to data-sharing. If a sponsor drops a trial, for reasons other than for safety or lack of efficacy, there needs to be a solution to keep it going for patients. As the contributors so insightfully point out, patient groups could work together to hold companies to account for their ethical obligation to facilitate that.

Wide-ranging as it was, the current roundtable could not focus on all the challenges. As a participant commented afterwards, the journey is not “just” about developing a therapy: it is about ensuring equitable access to that therapy. It is heartbreaking for families when a lifesaving or life-altering treatment is not available in their country but is in others. Additionally, while compassionate access to therapies may sometimes be approved by companies, the delays involved place a heavy burden on families. Having appropriate mechanisms in place for compassionate access is essential: delays due to lack of planning by the company and regulatory bodies as well as healthcare professionals can cost lives.

We are deeply grateful to the contributors for their insights, and we hold this roundtable up as an example of the value of multi-stakeholder collaboration. Through working together, we can surely overcome the challenges to reshape the rare disease landscape.

Executive summary

1: Withdrawals

2: Accountability

3: Data sharing

4: Communication

5: Reimbursement

6: Shaping value discussions

7: Manufacturing challenges

8: Funding mechanisms

To read the full report, click below:

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