The Patients Perspective - Interview with Matt Bolz-Johnson
ATMPs are revolutionizing treatment for rare diseases, but patient advocacy plays a crucial role in advancing research. In this interview, Matt Bolz-Johnson, from EURORDIS shares insights on the challenges, opportunities and impact of patient-driven efforts in bringing innovative therapies to those in need.
What is the patient's perspective towards ATMPs?
From the patient’s perspective, ATMPs are a groundbreaking shift in rare disease treatment, offering the hope, not only for effective treatment, but also for replacing lifelong therapies with one-time treatments. While these therapies are becoming a reality, their full potential is not yet being fully realized, and equitable access to these therapies across Europe remains poor.
There is growing concern about the number of withdrawals of approved ATMPs from the market for commercial reasons and the lack of investment in treatments that could still be improved. There are also fewer clinical trials in Europe, reducing opportunities for patients to participate in (and access) promising new treatments. Healthcare systems are not yet adequately prepared to adopt the expected wave of new therapies, as there is a lack of coordinated support to integrate these treatments effectively. Many treatments are delayed due to uncertainty about their long-term effectiveness, making healthcare systems and payers hesitant to invest in developing new therapies.
Despite these challenges, some progress is being made, with mechanisms like Managed Entry Agreements helping to introduce ATMPs, signalling an evolution in how healthcare is being delivered. However, with 95% of rare diseases still lacking a treatment, more needs to be done. Faster research translation and greater investment in early-stage development are crucial to ensuring that patients truly benefit from these innovations. Without these changes, the full potential of ATMPs will remain out of reach for many patients who desperately need them.
How can the rare disease patient community play a role in ATMP advancement and research?
The rare disease patient community plays a key role in both advancing ATMP research, by helping to define meaningful treatment goals, as well as in regulatory approval to demonstrate the value of these new therapies. The meaningful treatment goals, known as clinical endpoints, are crucial because they determine how a therapy’s success is measured and influence decisions on pricing and reimbursement. However, identifying these measures can be challenging, especially for rare diseases where no clear standards exist.
Early collaboration between patients, researchers, and healthcare decision-makers is essential to agreeing on what outcomes should be prioritized. In some conditions, like hemophilia, treatment success is easier to measure, such as whether a patient still needs transfusions. But in other conditions like sickle cell, where symptoms vary widely, finding a universal measure—like reducing hospitalizations—can be more difficult. For many rare diseases with no existing treatments, survival itself is often the most important outcome.
Patient groups must continue to advocate for treatment goals that truly reflect their needs and experiences. Their voices help ensure that research, clinical trials, and approval processes focus on what matters most to those living with these conditions. By staying actively involved, the patient community can shape the future of ATMP development and access.
How accessible are ATMPs to patients? Does this vary according to specific factors?
Access to ATMPs remains a major challenge due to financial, geographical, and regulatory barriers. High costs and the limited number of treatment centres make it difficult for many patients to receive care. The approval process for these therapies is also slow, delaying access to life-changing, potentially curative treatments. Patients seeking care in other EU countries face additional regulatory hurdles, further limiting access.
Beyond these barriers, patients and caregivers struggle with navigating complex approval processes and treatment pathways. Many ATMPs have a short window of opportunity for effective treatment, so delays in diagnosis can mean missed chances for care. Families often need extra support, such as housing near treatment centres, language assistance, and follow-up care. A lack of specialized centres and unclear policies on centralizing care make the situation even more difficult. National authorities often lack awareness of ATMPs, and reimbursement decisions remain opaque, leaving families lost in finding who is responsible and able to grant approval to access innovative treatments abroad. Hospitals also face financial strain, as current funding models do not always cover the full cost of providing ATMP treatments.
To improve access, EURORDIS has called for a European fund to support long-term data collection and infrastructure. Other funding models, such as a solidarity fund, could also help. A promising approach, inspired by the French early access scheme, involves making therapies available at full price before a reimbursement decision. This allows hospitals to collect crucial data, ensuring better-informed pricing and reimbursement policies.
Uncertainties about a therapy’s effectiveness at the time of approval should be resolved within a defined three- to five-year period. Managed Entry Agreements (MEAs) should be better integrated into the patient care pathway to ensure timely access, better treatment selection, and cost-effectiveness. Addressing these challenges in a comprehensive way would help remove barriers and improve ATMP access for patients and caregivers.
In what proportion do patient associations play a role in providing the information about ATMP groundbreaking treatments?
Patient associations play a vital role in educating families about ATMPs and helping them navigate complex treatment decisions. Some therapies, like Zynteglo, require careful planning, including time off existing treatments, which can be a difficult choice in the absence of long-term outcomes data. Parents and caregivers often have many questions about the risks, benefits, and what is still unknown.
Clear communication is essential to help families weigh these factors, including how a therapy might improve quality of life compared to the natural course of a disease. For conditions like neurodegenerative diseases, where daily lives and quality of life are significantly impacted, families must consider how much potential benefits outweigh the risks. Patient associations help facilitate these discussions, ensuring that families understand what a therapy can realistically achieve.
Beyond providing information, patient organisations also work to empower individuals who may not have a scientific background, helping them make informed choices rather than pursuing any available treatment without fully understanding its implications. Patients are increasingly calling for more education on ATMPs and a greater role for patient representatives throughout a therapy’s lifecycle. This includes involvement in development, approval, reimbursement decisions, and real-world data collection on long-term safety and effectiveness. By keeping patients informed and engaged, patient associations help ensure that ATMPs are developed and implemented in ways that truly serve patient needs.
💡 Want to know more about ATMPs?
Join the first webinar in the new JOIN4ATMP series: Streamlining the ATMP Development Pathway in the EU
📅 10 April 2025, 12:00 - 13.30 CET
Led by our ATMP and Mental Health Advisor, Matt Bolz-Johnson, this webinar will explore:
- Key challenges in the ATMP development journey
- The critical role of patient involvement
- Opportunities to co-design solutions for a more efficient and patient-centred pathway
📝Register now: https://www.eurordis.org/webinar-streamlining-the-atmp-development-pathway-in-the-eu/