WORLDSymposium 2025 took place 3-7 February in San Diego and our teams from MPS Society UK and RDRP were delighted to attend. MPS Society trustee, Dr Fiona Stewart joined Bob Stevens, Sophie Thomas and Bennie Marshall-Andrew as well as trustees Prof Derralynn Hughes and CSAC member Prof Simon Jones. Fiona reflects on her time at WORLD and we share our poster presentations and some key takeaways from the event.
WORLDSymposium brings together researchers, clinicians, and patient advocates to discuss the latest developments in lysosomal storage disorders (LSDs), including MPS and related conditions.
My first event was Patient Voices. It was great to see that the things being demonstrated as examples of innovative practice, were things we are already doing! There was also an interesting presentation on inequity and lack of diversity in rare diseases. This is a topic being addressed in the UK as well.
We all attended a meeting of LSD Global. This went really well and there was a great feeling that we could work together.
Our shared goals are knowledge, collaboration, best practices, therapies, access to treatment and policy. We are looking for ways to consolidate the funding for the secretariat to get us up and running.
As you can imagine, we had a fairly manic schedule of meetings with various pharma companies. We heard what was on their agenda and were also able to tell them about what we are doing. It was a good opportunity to showcase our advocacy service and, importantly, to make them aware of both the clinical trials arm and research side of RDRP.
We received some great feedback from companies who had been engaging with us.
Bennie, Sophie and I manned the joint MPS Society and RDRP booth. We had lots of interest and I don’t think I have talked continuously so much for ages! Plus, our hand-shaped highlighter block became the must-have merch of the conference.
I presented a poster on the work being done in Birmingham about identifying Fabry carriers with which I have been involved. My last event was a breakfast meeting on Friday also attended by Prof Derralynn Hughes. We discussed ways of improving cascade screening in Fabry disease.
I felt like it all went well and am pleased I managed to hand out loads of flyers advertising MPS Matters and highlighting our Dragons Den and poster competitions – I’m hoping we get plenty of applications now!
Bob Stevens, MPS Society UK and RDRP Group CEO, reflects on WORLDSymposium:
A sense of optimism has returned to the rare disease arena. More companies are looking to advance their treatment pipeline and we even saw companies from China being represented at WORLD. A great joint Global LSD Collaborative and industry meeting took place this year; and for the first time we set out our strategy to them. It was great to get such widespread support from our peers and representative from industry. Apart from that, there was a chance to catch up with colleagues from around the world and there was a buzz around our upcoming biomarkers meeting.
Recap on our poster presentations
Listen as Sophie presents two posters on transition and mental health shared at WORLDSymposium.
Key takeaways
Addressing inequities in rare disease care
Inequities in diagnosis, treatment, and access to clinical trials remain a major issue for medically underserved populations. The Rare Disease Diversity Coalition is working to improve data collection on race, ethnicity, and socioeconomic factors in clinical trials. The National MPS Society presented their Family Support Programmes, which aims to reach undiagnosed and unsupported families, ensuring more inclusive care. There was a focus on inclusive healthcare, equitable care, accessible support, cultural responsive and community cantered care.
Chronic pain and inflammation in Fabry disease
During an aptly named Fighting Fire seminar, research into Fabry pain was discussed. Pain is a major issue for Fabry patients, often worsening with age. Early ERT treatment has been shown to reduce inflammation and preserve organ function, but does not completely eliminate pain. There were discussions about the use of adjunctive pain medication to further address pain symptoms
Innovation in gene therapy and newborn screening
Gene therapy advancements in MLD and MPS IIIA showed positive results, with early intervention leading to better developmental outcomes. There was strong advocacy for universal newborn screening as early diagnosis is crucial for effective treatment. The MPS Society continue to actively contribute to discussions around the expansion of the UK newborn screening programme.
Advances in MPS II Hunter research and treatment
During a satellite symposium called Voices in Unison, insights into the unmet needs in MPS II from patient community and physician perspective were explored. Discussion focused on some of the unmet medical and social needs of families affected by MPS II, such as looking in more depth into important questions such as "What causes you the most worry?", something we perhaps should be asking more often!
Issues such as eye health, insomnia, anxiety, infusions, missed school seizures, and behaviour were all touched on; as well as the need for more work to be done towards advancing treatment, advocating for access and empowering patients and their families.
Industry updates on WORLD
Click the buttons below to read further industry updates from WORLDSymposium 2025.
