Progress, Potential & Challenges in Gene Therapy: Companies Forum Insights
At CamRARE, we believe that real progress in rare diseases happens when we break down silos and build bridges. That’s the purpose of Companies Forum – a trusted space where leaders connect to challenge assumptions, share insights, and co-create bold solutions.
Reflections from CamRARE’s most recent Companies Forum discussion bringing together science, systems, and lived experience.
Gene therapy is often described in bold terms: transformational, even curative. But what does that really mean in practice?
Our speakers from across industry, advocacy, and patient communities explored this question from multiple angles. What emerged was a nuanced picture of extraordinary scientific progress and complex real world challenges.
A Transformational Idea meets Real-World Complexity
Gene therapy has been widely described as revolutionary. Since the breakthrough genome editing work of Emmanuelle Charpentier and Jennifer Doudna in 2012, the field has advanced rapidly, arriving at this exciting, yet complicated, frontier that more and more therapies are beginning to reach: moving from research into real-world care.
For rare diseases especially, gene therapy represents a shift from managing symptoms to addressing underlying causes. In some cases these therapies translate into life-changing outcomes that were just not possible before.
However alongside that promise is the complicated reality of uneven access, complex delivery and time critical windows of opportunity.
Two Paths, One Goal
Gene therapies typically follow one of two approaches:
- In vivo: delivering genetic material directly into the body
- Ex vivo: modifying a patient’s cells outside the body, then reinfusing them
In vivo approaches can be delivered more quickly, however are not bespoke, while ex vivo therapies are completely personalised, but involve complex manufacturing that can take weeks or months, time that is often critical for successful treatment outcomes.
Using metachromatic leukodystrophy (MLD) as a case study, which has a gene therapy available on the NHS, it was highlighted that only a handful of patients have received it. The reason is not scientific limitation, but timing of diagnosis and therefore access.
Although patients have been diagnosed since the therapy has become available, only a small proportion were eligible for treatment as the others had progressed beyond the point where gene therapy could help them.
Beyond this time challenge, lie some further issues, including: the logistics of complex manufacturing, the burden of travel to a limited number of treatment centres, long-term follow-up requirements, and high upfront costs.
From Approval to Access: The Hidden Journey
Another challenge highlighted was the long process of approval to patient access.
After regulatory approval, treatments must go through health technology assessments (such as those by National Institute for Health and Care Excellence), funding decisions, and implementation planning. This process can take years and after all that, access still isn’t guaranteed.
The Patient Perspective: Hope, Hesitation, and Hard Choices
From the outside, gene therapy can sound like an obvious choice. But for patients, the decision is rarely straightforward.
Taking haemophilia as an example, uptake of gene therapy has been more cautious than expected. Individuals find themselves carefully weighing up:
- The possibility of reducing or eliminating ongoing treatment
- Uncertainty about long-term safety and durability
- The irreversible nature of the therapy
- The burden of intensive follow-up
Community and historical context matters too. In the haemophilia community a clear link is seen where experiences from the contaminated blood scandal shape perceptions of risk and trust.
In some disease spaces, gene therapy is not the only option. It may sit within an already evolving treatment landscape, where existing therapies significantly improve quality of life and therefore uptake is not a given.
Navigating Early Access
For patients who cannot access clinical trials, early or “expanded” access to investigational therapies can be a lifeline, however it also raises difficult ethical and practical questions:
- Is there enough evidence to justify the risk?
- Are healthcare systems ready to deliver the treatment safely?
- How do we ensure fairness across patient populations?
Following extensive consultation, and in collaboration with clinicians and patient groups, Bionical Emas have developed a decision-making framework.
A key insight from the development process being that assumptions from clinician and research do not always align with the actual views of the patient community. While patient groups were expected to strongly favour early access, many actually emphasised caution, recognising the risks involved.
The framework therefore brings together multiple considerations: risk–benefit balance, clinical readiness, logistics, regulatory context, and timing. Perhaps most importantly, the process is iterative, and allows for decisions to be revisited as new evidence emerges.
This reflects a shift, moving from reactive, ad hoc decisions towards more structured and transparent approaches, centering the patient community’s view.
Newborn Screening
A key issue that cut across the meeting, was that early diagnosis is pivotal.
For conditions like MLD (metachromatic leukodystrophy), two very different realities exist. Those diagnosed early, often accessing testing because of an affected older sibling, may receive treatment and go on to live relatively typical lives, while those diagnosed later face rapid disease progression, intensive care needs, and significantly shortened life expectancy.
This stark contrast extends beyond clinical outcomes. A late diagnosis places enormous emotional, practical, and financial strain on families, on top of the added care burden, and cost to healthcare systems, and (possibly preventable) loss of a loved one.
Newborn screening has the potential to change this, by identifying conditions early enough to enable timely treatment, and transform long-term outcomes.
Yet increased access to newborn screening in the UK has been slow, and MLD and some other conditions where treatments are now available, have not yet been added to newborn screening programmes despite the massive difference it could make to those affected.
The message in this meeting was clear: in many instances, the barrier is not scientific capability, but system readiness.
A central theme running throughout the discussion was the gap between rapid scientific progress and the slower pace of system change.
Final Reflections: Bridging the Gap
Gene therapy is advancing quickly, but access remains inconsistent. For many families, it is still not a real option.
Bridging this gap will require more than innovation. It will depend on aligning science with policy, infrastructure, and lived experience, ensuring that breakthroughs translate into meaningful, equitable impact.
Join the Conversation: RAREsummit26
These challenges are not something that any one sector can solve alone, and conversations like this are only the beginning.
RAREsummit26 will bring together voices from across the rare disease ecosystem to continue exploring these critical issues, from innovation and access, to policy and patient experience.
📅 7 October 2026
📍 Wellcome Genome Campus or Online
Whether you work in healthcare, research, industry, advocacy or live with a rare condition, your voice matters.
Learn more, get involved, and be part of the conversation shaping the future of rare disease care.
