The real burden of treatment access for rare disease communities
Access to treatment is often discussed in terms of availability, approvals and reimbursement – but for many people living with rare diseases, the day-to-day reality of accessing care remains a significant and often overlooked burden.
New research presented by Sciensus and Rare Patient Voice (now part of Konovo) at ISPOR 2026 sheds light on the practical, emotional and financial challenges faced by rare disease communities across Europe, revealing how treatment access logistics can directly affect quality of life and wellbeing.
The study, Surveying treatment access and support for rare diseases in Europe: A Quantitative Cross-Country and Patient–Caregiver Comparative Analysis, surveyed 217 respondents, representing more than 150 rare diseases, across the UK, France, Germany, Italy and Spain to better understand the lived experience of accessing treatment for rare diseases.
Treatment access remains a daily challenge
While many respondents described treatment access as manageable, the research identified a meaningful minority experiencing ongoing logistical burden.
Among the most significant findings:
- 50% of respondents either had no access to home delivery services or were unaware such services existed
- 28% spent more than one hour collecting treatment and 12% spend more than 2 hours
- 12% spent more than two hours travelling or collecting medication
- Caregivers were more likely than patients to experience longer collection times and access challenges
- Financial burden increased significantly as collection time increased
- Respondents with access to home delivery reported significantly better wellbeing
The findings suggest that access challenges are not isolated incidents, but recurring realities that shape everyday life for people living with rare diseases.
For many respondents, treatment access involved repeated travel to hospitals, pharmacies or specialist centres, often requiring considerable time, planning and personal expense. In some cases, geographic inequality meant patients had to travel across regions – or even countries – to receive specialist care.
The link between access and quality of life
One of the clearest conclusions from the research is the strong relationship between treatment access and quality of life.
Respondents with access to home delivery services were nearly twice as likely to report positive wellbeing compared with those without access. Conversely, respondents lacking home delivery support were more likely to report negative impacts associated with treatment collection and care coordination. Importantly, 85% of respondents said that home delivery availability would improve quality of life.
The study reinforces the idea that access is about more than simply receiving medication. The way treatment is delivered – including convenience, reliability, communication and support – can materially shape the patient experience.
Reducing logistical barriers may help lessen stress, improve adherence and create more sustainable treatment journeys for people already managing complex and often lifelong conditions.
Structural gaps across Europe
The research also highlighted substantial variation in access across European healthcare systems.
Italy and Spain showed the highest levels of unmet need related to home delivery access and awareness, pointing to broader structural differences in healthcare delivery and patient support infrastructure.
At the same time, the study found that challenges such as delays, supply disruption, emotional strain and financial pressure were shared across all five countries surveyed, suggesting that treatment burden is a broader systemic issue rather than one confined to a specific healthcare market.
Alongside the quantitative findings, respondents shared powerful qualitative insights into the realities of living with rare disease.
Common themes included:
- Delayed diagnosis and treatment linked to clinician unfamiliarity with rare diseases
- Ongoing supply chain disruption and medication shortages
- Psychological burden, isolation and lack of emotional support
- Geographic inequality in access to specialist care
- Caregiver burnout, advocacy fatigue and financial pressure
These findings demonstrate how access burden extends beyond clinical care alone and affects multiple dimensions of daily life.
A growing need for patient-centred access models
As orphan drug development continues to advance, the findings highlight the importance of designing healthcare services around the realities patients face outside the clinic.
Improving treatment access pathways may require:
- Expanded home delivery services, particularly in Southern Europe
- Better communication and awareness of support options, including psychological and caregiver support
- Reduced logistical complexity for patients and families
- More reliable treatment supply systems
- Greater integration of patient experience into service design
The study ultimately reinforces a simple but important principle: when access becomes harder, the burden on patients rises quickly.
By listening more closely to lived experience and reducing avoidable treatment friction, healthcare stakeholders have an opportunity to improve not only access to medicines, but also the quality of life of the people who rely on them every day.
