ne global pharmaceutical company’s journey with the spinal muscular atrophy (SMA) community, to develop a small molecule medicine that increases and sustains the production of survival motor neuron (SMN) proteins throughout the body, showcases the power of patient engagement to transform drug development. With patients as co-navigators, the voyage transcends clinical development and regulatory milestones, ensuring alignment with real-world patient needs and leading to more effective, inclusive, and impactful healthcare solutions.

Recognizing that people living with SMA and their caregivers are the true experts in navigating life with the condition, the company systematically ensured that their insights guided the journey from the start. This article illustrates how partnering with patient organizations can chart a course for patient-focused innovation—demonstrating that when patients help steer the ship, the voyage arrives at meaningful destinations.

Key Strategies for Patient Partnership

1. Capturing the Winds of Patient Insights

To keep the sails full, the company established dedicated channels for gathering patient perspectives such as advisory groups, working groups, and leadership discussions. Ensuring an active presence at key patient congresses also enabled listening to patients in a more open setting. These insights directly shaped key decisions across research and development.

• Charting the Course with a Conceptual Model: In collaboration with Cure SMA and SMA Europe, the company developed a disease conceptual model to understand the real-life impact of SMA from the patient, family, and caregiver perspectives. Their insights informed the selection of clinical trial endpoints, ensuring they measured outcomes that truly mattered to patients.
• Building Tools for Independence: This disease conceptual model revealed that maintaining independence was a top priority for patients. In response, the company co-developed the SMA Independence Scale—a patient- and caregiver-reported measure—to ensure that clinical trials captured meaningful data on key activities of daily living.
• Guiding Clinical Meaningfulness: Feedback from SMA Europe inspired a study assessing the relevance of the primary endpoint of the pivotal SUNFISH trial (NCT02908685). Designed with Cure SMA and SMA Europe, this project examined how the MFM32 clinical outcome measure reflected real-world activities, with patient leaders serving as co-authors.
• Co-Creating Accessible Materials: The company worked with SMA Europe and Cure SMA to refine patient materials such as Instructions for Use and Patient Information Leaflets, refining the lay language to make them clearer and easier to read.
• Anchoring Patient Voices in Regulatory Submissions: The company integrated patient-reported outcome data and findings from patient organization-led surveys (e.g., Voice of the Patient report, EUPESMA) into regulatory and reimbursement submissions to ensure real-world patient needs were reflected in decision-making.

2. Including Patient Leaders at the Helm

As a co-developer of this new treatment, the SMA Foundation played a pivotal role on the program’s Joint Steering Committee, alongside the company and the leadership of another pharmaceutical development partner. This committee oversaw the clinical development program of the medicine, ensuring that patient perspectives were strategically embedded at the highest levels. SMA Foundation representatives also joined FDA meetings, bringing the voices of people living with SMA directly to the regulatory discussions.

3. Designing Trials That Reflect Patient Realities

The company worked with SMA Europe, Cure SMA, and the SMA Foundation to shape clinical trial design, making participation more inclusive and less burdensome:

• Seamless phase 2/3 trial designs were introduced, combining phases 2 and 3 into one single, uninterrupted study conducted in two parts: Part 1 (phase 2) evaluated safety, PK, and PD to determine drug dose; after the dose was selected, the study seamlessly proceeded into Part 2 (phase 3) at the same study sites.
• Broader inclusion criteria and fewer exclusion criteria ensured diverse participation.
• Feedback on study protocols, informed consent forms, and assessment schedules helped reduce participation barriers, such as attempting to mitigate the number of missed school or workdays.

These organizations also took an active role in helping communicate the rationale and goals for specific clinical trials to support education and understanding in the broader community.

4. Adapting to the Storm: COVID-19 Response

When the pandemic caused rough waters, the company quickly adapted to keep patients safe while ensuring trial continuity:

• Home drug delivery systems with contactless pickup and delivery were implemented.
• Home nursing services provided additional support. These patient-inspired adaptations underscored the importance of flexibility and responsiveness in patient-centered drug development.

5. Clear Skies: Transparent Communication

In order to build and maintain trust, the company ensured open lines of communication with the SMA community through:

• Participation in community-led webinars and in-person events on clinical trials and regulatory updates
• “Dear Community” letters to share key program updates with major advocacy organizations in response to requests and where local laws allow
• Trial lay summaries, family-friendly conference materials, and FAQs to keep the community informed.

6. Streamlining Engagement with a Primary Relationship Manager (PRM)

To maintain a steady course, the company introduced the PRM model: Establishing a dedicated point of contact at the company for each SMA community organization, ensuring a streamlined approach for effective, transparent, and meaningful engagement.

Reaching the Destination: Impact of Patient Collaboration

This small molecule’s development journey demonstrates the power of patient engagement. In just four years, the company navigated from clinical development to regulatory approval from the US FDA (August 2020) and EMA (March 2021).

From there, the collaboration continued—from defining the criteria of the early access program, to input into payer dossiers, or defining and delivering post-approval evidence-generation projects, to the development of a new room temperature-stable tablet formulation (approved by FDA in 2025)—all as part of a continued commitment to improve care and outcomes for people living with SMA, together.

By including patients at the helm, the company accelerated development and expanded access, proving that patient partnership is not just the right course, but also the fastest and most effective.

Call to Action

• Engage Early and Strategically: Bringing patients, caregivers, and advocacy groups on board at the start of clinical development ensures that their insights shape decision-making and lead to innovations that truly address patient needs.
• Commit to Transparency: Open, two-way communication between the community and the company builds trust and strengthens collaboration—the company’s PRM model exemplifies how dedicated patient engagement fosters long-term partnerships.
• Create a Scalable Model: The company’s approach provides a framework for future patient-focused drug development. By embedding patient voices early and often, other companies can chart a similar course toward patient-centered innovation.