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  • Loretta MacInnes

Fabry Awareness Month 2024 Draws to a Close


As Fabry Awareness Month draws to a close for 2024, I have looked back over the past 12 months to see what, if anything, has changed in the world of Fabry.


Whilst that wished-for cure remains elusive, there continues to be some exciting research in the field of Fabry. From the Clinical Trials website I found 220 Fabry Disease studies listed. Of these, 104 are completed (33 of these with results posted) and 40 studies are currently recruiting (7 of which are recruiting within the UK). There are, unsurprisingly, a wide range of studies within the listing. Filtering for gene therapy resulted in 18 studies, of which 2 are actively recruiting and 8 are completed. If you are interested in Fabry Research I would definitely recommend checking out this site.


Another research development is within the area of Patient-Led Research. Now, this could just be one of those flavour-of-the-month things, where we hear a lot of talk about putting the patient at the centre of everything to do with their own health. It's such an easy thing to say, but it rarely happens. However, there is some really noteworthy activity happening within the research communities. Two organisations, Cambridge Rare Disease Network (disclosure I am a Trustee here), and the Patient-Led Research Hub have come together to form the Rare Disease Research Network (RDRN). The aim of this network is to further develop patient-led research. So what exactly does that mean? Well, it means that rather than research being commissioned about patients, ideas for relevant research projects that come from patients or patient groups will, at last, be taken seriously. The RDRN is building a community of patients, their families, carers and supporters, as well as research and industry professionals, who firmly believe that individuals who are actively experiencing a rare condition have a unique perspective on what needs to be done to improve that condition. The RDRN is developing a platform for this community to work together to carry out research that the individual, whether through direct lived-experience, caring for or supporting someone with a rare disease, actually wants. Hopefully this platform should be launched in November 2024 and if this sounds like something you would be interested in finding out more about you can sign up to get further information.


Treatments

Treatment of Fabry has not changed much since my diagnosis ten years ago. When I was first diagnosed the chaperone treatment Migalastat (Galafold) had just been introduced as an alternative therapy for Fabry. It was in tablet form and my family  hoped that this would be available as a treatment option for us. Alas, it was not to be as our mutation was not amenable. We were lucky though that Replagal and Fabrazyme Enzyme Replacement Therapies (ERT’s) were available to us and we began our bi-weekly infusions.  At the end of 2023 a new Fabry treatment was approved by NICE – Elfabrio. It’s another ERT, but I can’t find out much more about it other than through the press releases that came out in October 2023. If anyone has experience of it, or knows more I’d love to hear from you. As of today I believe it's approved for use in England and Wales, but not yet for use in Scotland.


Fabry Matters Conference

For those of you in the UK that attended the Fabry Matters Conference in March, run by the MPS Society, it was lovely to meet you! This was the first UK face to face event for Fabry families since Covid, and it was great to be in an environment where we could meet, talk and find out how we were all getting on. Not surprisingly there were many common themes discussed including the issues surrounding transition from paediatrics to adult care, the lack of mental health support for all ages, but especially for older teenagers and young adults and issues surrounding employment – especially maintaining a job when you have so many medical appointments, coupled with having some good days and some bad days. One really interesting topic was around nutrition and hormones and I would like to thank Claire O’Meara and Dr Seema Kanwal for such thought-provoking presentations. My youngest is 24 and has actually revamped his diet following advice from this session – and that is a mini-miracle. More of these face-to-face activities are needed as well as opportunities to network with each other. A number of us have our own small networks already and it's good to see that the MPS Society are in the process of setting up MPS and Fabry WhatsApp groups for their membership.


I haven’t posted many articles this year, but promise to do better. From a family perspective, we have new medications, implantable loops and research trials to talk about. I’ll write more about these soon.  In the meantime, if there’s a topic you’d like me to cover or a question to ask then please do get in touch – I love hearing from you.

 

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