Patient-centric drug development: from needs identification to registration and inclusion in the reimbursement system
The July issue of DIA Global Forum published a detailed case study in which patient organizations—Cure SMA, SMA Europe, and the SMA Foundation—became full partners of a pharmaceutical company in the development of a drug for spinal muscular atrophy (SMA). Although the company and drug name are not specified, the description makes it clear that the case refers to risdiplam, an oral small molecule that stimulates SMN protein production.
Patient experience and expert opinions were integrated into the process from the very beginning, radically influencing the research approach, accelerating approval, and ensuring a sustainable reimbursement strategy.
What was done and the outcomes:
Defining patient priorities through a disease conceptual model
Together with patients and caregivers, a conceptual model was developed to describe the daily impacts of SMA. This tool was used to select clinical trial endpoints that reflect real patient priorities—not only motor functions but also quality of life, autonomy, and social participation.
Development and application of the SMA Independence Scale
Through collaboration with the community, a new questionnaire—the SMA Independence Scale—was developed to assess patients' ability to perform daily activities. This scale was used as an additional endpoint in clinical trials, helping to gather real-world meaningful data.
Assessing the clinical significance of the MFM32 scale
At the initiative of SMA Europe, a separate study was conducted with patient community representatives as co-authors. The goal was to determine how changes in the MFM32 scale (the primary endpoint in the SUNFISH study) corresponded to improvements in functions meaningful to patients' lives. The study results were included in the regulatory dossier and helped justify the clinical significance of the observed effects during the approval process.
Adapting clinical trial design to real-life patient conditions
- A seamless Phase 2/3 design was implemented: after completing Phase 2 (dose and safety assessment), the trials continued without interruption into Phase 3 at the same sites.
- Inclusion and exclusion criteria were relaxed, allowing for a more diverse patient population.
- The visit schedule was revised to be more flexible, enabling patients to miss fewer school or work days.
These changes made trial participation more accessible, accelerated enrollment, and improved data generalizability.
Co-development of patient materials
Together with Cure SMA and SMA Europe, instructions for use, informational brochures, and informed consent forms were revised—language was simplified, and the structure was made clearer for families, including those with no prior clinical trial experience.
Integration of patient data into approval and reimbursement strategies
Survey results, reports from the Voice of the Patient and EUPESMA initiatives, and SMA Independence Scale data were included in submissions to the FDA, EMA, and health authorities. This ensured an evidence base reflecting real patient experiences and became a key element in securing reimbursement and early access programs.
Sustainable engagement model: PRM (Primary Relationship Manager)
The company implemented a PRM system, assigning each patient organization a dedicated contact—a company employee responsible for coordinating and developing the partnership. This ensured stable feedback, process transparency, and patient involvement at all stages—from preclinical strategy to post-approval monitoring.
Flexible adaptation during the COVID-19 pandemic
The company quickly implemented solutions to reduce patient risk and ensure treatment continuity:
- home delivery of the drug,
- organization of nursing support,
- transition to remote monitoring.
Result
In just 4 years, the drug progressed from clinical development to approval:
- FDA approval in August 2020,
- EMA approval in March 2021,
- a new room-temperature-stable tablet formulation approved in 2025.
Thanks to patient involvement, the drug was included in early access and reimbursement programs in several countries, including in Europe.
This case is an important example of how patient partnerships do not slow down but rather accelerate and improve drug development, approval, and accessibility. Such an approach can and should become a model for other orphan and highly specialized therapies.
