Innovating Patient Registries for Rare Diseases: The FSHD Global Success Story

Innovating Patient Registries for Rare Diseases: The FSHD Global Success Story

A rare disease, Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular condition with no approved curative treatment. However, supporting research within the rare disease community comes with unique challenges such as limited awareness, scattered data, and a deeply personal sense of urgency.

FSHD Global is an Australian not-for-profit set out to create a better experience for FSHD patients. Rather than just collecting patient details, the team wanted to build something that empowered individuals, encouraged long-term involvement in research, and helped raise awareness of the condition. Their goal was to make it easier for FSHD patients to stay informed, access their information, and take part in clinical trials. To support this, they looked for a digital platform that was easy to use, let FSHD patients see their information, and helped them keep track of their progress.
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‍The problem

FSHD Global was using a basic platform where patients could register and upload saliva samples. While the system worked on a basic level, it had several limitations. Patients couldn’t access or update their information, and there was no way to follow up with those who hadn’t completed the process. Out of 200 registered patients, only 45 had finished their uploads. The team also couldn’t track progress easily or communicate with participants, which made it hard to keep people engaged and slowed down the overall process.

Many patients were confused by the process as this was a one-way system and lacked effective support to guide patient journeys. 
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The objectives 

FSHD Global needed a platform that could:

• Make the experience smoother and more valuable for patients
• Allow ongoing access and ownership of their data
• Support two way communication
• Handle data management and compliance without draining internal resources
• Adapt as the needs of the community evolved

And, importantly, the team needed a solution that could be delivered within the capacity of a small not-for-profit organisation.
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The Solution

Partnering with WeGuide, FSHD Global co-developed a patient engagement platform that was tailored to the registry needs through an intuitive mobile app. With hands on project management, support with integrations, and practical guidance, WeGuide delivered the solution that allowed patients to: 

• View and share their genetic information instantly from their phones
• Receive updates and communications directly from FSHD Global
• Take control of their own records for medical appointments and trial eligibility
• Feel like active participants rather than data points
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‍The impact 

Since launch, the difference was immediate for FSHD Global.  The newly developed patient engagement platform offered improved patient engagement and operational efficiency.  Some of the tracked outcomes were:

• Using the in app Clinical Trial Passport, one participant was able to confirm their eligibility, allowing them to enroll in an interventional clinical trial, and highlighting the improved platform’s immediate impact on patient access to research.
• Leveraging the presence and success of the platform, two new interventional trials have been launched in Australia. 
• Patients can seamlessly share records through the app for medical appointments. 
• From the backend, the improved registry offers opportunities for real-time engagement monitoring and actionable analytics. 

Providing consistent and comprehensive support across key functions, WeGuide ensured on-time delivery of solutions, allowing seamless adoption of the new platform. 

Given the success of the improved platform & the overwhelmingly positive patient response, additional features like symptom tracking and mood logs can be added to future iterations. 

Reflecting on the collaboration, Emma Weatherley, Managing Director at FSHD Global, shared her appreciation:

“The feedback from our patient community is overwhelmingly positive. We've had our first patient, who got a clinical trial passport, actually be able to demonstrate her eligibility and join a clinical trial. We have two separate interventional drug trials running in Australia that were sold to these industry partners because we had this infrastructure.”
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Conclusion

With sustained support from WeGuide, FSHD Global continues to build a digital foundation that not only empowers patients but also positions Australia as a viable and attractive destination for clinical research in rare diseases.

This success story showcases how a simple registry can be transformed into a digital engagement platform focused on simplifying communication, improving accessibility and enhancing the overall patient experience.