ZiP008 Pompe Community Meeting : October 8th, 2022
A huge Thank you to all of those within the Pompe community who joined us for the latest Pompe Community meeting, held virtually on Zoom. We had hoped to host the meeting in-person, however, due to travel restrictions, Covid concerns and the current cost of living, it was decided to hold the meeting virtually. These concerns were confirmed by those attending the Zoom meeting and we will continue to monitor this going forward for future meetings.
The meeting agenda covered an array of topics and it proved to be a very engaging and interactive discussion.
Allan Muir opened the meeting and explained how our community will soon benefit from the formalisation of the LSD Collaborative (an umbrella organisation of 10 charities). Once the organisation is registered with the Charity Commission, we will take a seat on the board of trustees and will benefit from a much closer relationship with the LSD community.
The Pompe Support Network (PSN) continue to represent the Pompe community views to industry, NHS and drug regulators, and supporting medical research along with researching non-medical technologies (more of that later). It was also mentioned how PSN are working alongside AGSD-UK collaboratively, with the aim to serve the community as best as we can.
The importance of the Pompe community taking part in National and International surveys was stressed, and this was shown with a brief overview of the results of the LSD Community Survey 2022. The survey results provide valuable feedback of views on treatment therapy care, experiences (good and bad) of the Specialist Centres across the UK to homecare treatment, with post-pandemic Covid restrictions and the mental health and wellbeing effects of a Pompe sufferer, and what each person would recommend is their best way of dealing with this. We had a great response from the Pompe community, although numbers were a little lower than those received from the 2020 survey, and we hope to publish a summary report in the near future.
A selection of the survey results of the LSD Community Survey 2022
Allan Muir gave an update on current medical research. There may be as many as sixty organisations developing therapies for Pompe, but Allan concentrated on the fifteen with which he has had close contact.
First the meeting discussed their experiences with the new Enzyme Replacement Therapies (ERTs) that were given approval through EAMS (Early access to Medicines Scheme) in England. Allan also described five other ERTs being investigated by biotechnology companies in the US, Europe, and Japan.
Moving on to Substrate Reduction Therapies, designed to reduce glycogen synthesis in muscle by partially inhibiting the gene GYS1, two companies were highlighted with completely different approaches. The outcome, however, is a muscle that is much more able to regulate the amount of glycogen. In some cases these may be monotherapies, but in others they may be used alongside ERT.
Allan listed ten companies currently involved with Gene Therapies for Pompe disease. Some have clinical trials underway already and others are expecting to initiate clinical studies in the next couple of years.
PSN Communications Officer, Alex Jones, went over the latest on-going projects which involve many of the Pompe community. We are still hoping for many more submissions to our ‘Pleasurable Activities’ project which is developing into an interesting and fun resource to inspire others to find fulfilment in new activities. We are asking everyone within the community to share an activity they love to do and just a short explanation as to why it works and how others can try this too.
Alex also discussed the subsidised experiences we have been approached about from specialist companies, and making them fully accessible to everyone, whatever their abilities. Would you be interested in a once-in-a-lifetime experience, whether it be sailing or flying/gliding? If so, let us know and we can put you in contact with these companies.
Alex is also looking for volunteers to feature in the Pompe Voices podcast series, so please do get in touch if you’d like to share your story and help others in the community connect their story to yours.
PSN has recently facilitated the assessment five Pompe adults wearing a Mollii Suit for just one hour. Most found some benefit from the suits, but three especially so. Kevin Annesley kindly spoke in detail about his experience with the Electrical Muscle Stimulation (EMS) suit which can improve muscle tone and reduce pain. Alongside a video of Kevin wearing the suit during his assessment, he explained the benefits he felt from the suit, and how these positive effects were felt for 3 or 4 days later. Kevin took lots of questions about how it felt to wear the suit and the results afterwards, and there was a lot of interest in the benefits the suit can give. It was concluded that a 2-month trial of the suit would provide valuable insights, and everyone would be very interested to know the outcomes. Assessments would need to be monitored by physiotherapists to help us understand which members of the community would benefit most.
Another non-medical technology we are researching is the Tutti Toot Trumpet – a digital musical device designed to provide improved Airway Clearance and treatment compliance for those with respiratory conditions. Although currently undergoing trials for Asthma and Cystic Fibrosis, the company CEO is very interested to understand how it could help to improve respiratory function in Pompe disease. A few members showed great interest in to trying out the device as a respiratory muscle training aid, so we will continue to discuss this with the company and report back at a later date.
The highlight of the meeting was our special guest speaker, Katie Hoolahan of VR Healthy, a Virtual Reality company who create VR health programmes and research their physical and mental health benefits. Katie presented a thorough demonstration of her company and the VR headset, alongside a video showing different programmes which could benefit those with Pompe, including meditation as well as games with physical interaction.
This evoked a lot of interest from all members with everyone keen to find out more and eager to trial one of the headsets. It was a shared belief that the virtual world could benefit both physical and mental health and so be useful to most members of the Pompe community. Katie kindly answered a host of questions, and the presentation was a clear success, it was even suggested that we could host a future meeting in the virtual world!
We Thank Katie for presenting for us and graciously answering all questions and we hope to continue to work with VR Healthy to develop suitable VR programmes for Pompe.
We Thank all those who attended and took part and we look forward to the next Pompe meeting.