'Stichting Voor Sara'
Today, June 20, marks World FSHD Day. Patients with rare neuromuscular disorders often face an uncertain future of progressively worsening symptoms, with limited options to halt or prevent disease progression. To accelerate research into treatments and give patients the care they deserve, multiple organizations are working together to create a patient-focused platform that collects data directly from patients, offering a more holistic view of life with a neuromuscular disorder and supporting better decision-making.
This consortium of organizations, known as PaLaDIn (Patient Lifestyle and Disease Data Interactium) has selected the umbrella patient organization FSHD Europe, which is based in the Netherlands and linked to the Radboudumc, and a partner in Project Mercury, the global, patient-led initiative working to speed FSHD trial readiness and access, to use the neuromuscular disease FSHD as a case study for this innovative platform.
What is FSHD?
Facioscapulohumeral muscular dystrophy, or FSHD in short, is a rare (~1 in 10,000) hereditary muscle disorder that can cause muscular degeneration and progressive weakness. Patients often start noticing problems in their face and upper body through their teens and twenties. Examples include having trouble raising their arms above their shoulders, or not being able to blow up balloons, whistle, or play a wind instrument due to muscle weakness in the lips. The name FSHD reflects the muscles most often affected, the facial muscles, shoulder girdles and upper arms, but weakness of the trunk, hips and lower limbs also can occur especially in the later stages of the disorder. Approximately, 20% of the patients become wheelchair users. You can imagine the condition profoundly impacts patients’ quality of life, as they face musculoskeletal pain, fatigue, and mobility challenges.
The road to treatment
Unfortunately, FSHD patients only receive treatment to combat their symptoms because no other treatments or cures have been approved yet. However, there is cause for hope as multiple phase I, II and III trials are currently underway. Dr Ria de Haas, CEO of FSHD Europe said: “After decades with no treatment, FSHD is now one of the most dynamic rare disease pipelines. With more than twenty companies developing therapies and trials underway across Europe, the challenge has shifted from whether treatments will arrive to whether we are well-prepared. That is where we make the difference.” One of the challenges is to accurately assess the efficacy of drugs in clinical trials. To do this, you must understand how a disease normally progresses. Up until now, most of the data used for this comes from a clinical setting. However, what’s missing is the part that matters most: how people actually live with the disease from day to day.
Putting patients in the spotlight
This is where the PaLaDIn project can make a real difference. While patients and their caregivers experience the impact of their neuromuscular diseases every day, they aren’t often the primary focus in the collection of data. Instead, hospitals and other clinical sites collect most of the data, which results in a focus on clinical data. Some patient-focused data such as from wearables or lifestyle questionnaires does exist, but these are rarely combined with each other or the clinical data.
The collaboration between PaLaDIn and FSHD Europe, and the latter’s relationship with Radboud University Medical Centre, is stepping in to bridge this gap, drawing on the foundation laid by Project Mercury. By combining all this data together into an ‘Interactium’, these groups hope to accelerate drug development and precisely target the actual wants and needs of the people living with the condition. The scope of the PaLaDIn project is international, and is being led by Parent Project Italy, based in Rome. The FSHD case study workstream is being co-led by the US-based FSHD Society and the UK-based TREAT-NMD, with the wider project supported by a global network of experts in the neuromuscular field, many of whom already work together through Project Mercury.
Current and future impact
While not the direct goal of this collaboration, Ria de Haas also explained that patients are keen to contribute to research into their own diseases. She explained: “We speak with many patients, and their gratitude and excitement are clear. Simply knowing that meaningful time and energy are being committed to their specific disease makes a real difference to them.” For many patients and caregivers, the opportunity to contribute data or serve on advisory boards means their voices are heard. Hicham Alaoui Fdili, who is an FSHD patient and involved in the Patient and Caregiver User Group of PaLaDIn, said: “We are moving from being passive research subjects to becoming active co-designers of our future care. By transforming our daily reality, such as fatigue and mobility challenges, into robust scientific evidence, we ensure that clinical trials measure what actually matters to us.”
The end goal of the FSHD-focused sub-project is the development of a disease progression model that puts patient experiences at the centre. Models like this are required to request approval of drugs by the European Medicines Agency (EMA) and will thus directly contribute to accelerating treatments. If this collaboration succeeds, the future of FSHD research won’t just be brighter, it will be shaped by the people who need it most.
Curiosity piqued? More information can be found through FSHD Europe, PaLaDIn, or Project Mercury - The Global Initiative to Speed the Delivery of Therapies for FSHD
