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At the "Steps Forward in Pompe Disease" 8th European Symposium on November 11-12, 2016 in Amsterdam (NL), organised by Sanofi Genzyme, one session was dedicated to a review of 10 years of enzyme replacement therapy. A company perspective was presented by Henk Schuring, Vice President and Head of Rare Neurological Diseases (Sanofi Genzyme), a doctor's perspective was given by Ans van der Ploeg (Erasmus MC Rotterdam, The Netherlands), and insights into the patient community perspectives were given in a speech delivered by Tiffany House, President of the IPA. We want to share this speech with the Pompe Community:

Past, Present and Future

2016 has been an interesting year for the Pompe Community. It is the ten-year anniversary of the approval of a treatment for Pompe by the EMA and FDA: a milestone that should be celebrated. The majority of patients around the world now have access to treatment. The IPA recognizes that this treatment is not a cure, and its effectiveness varies for patients. But what we know without a doubt is that it is an important first step in the treatment of Pompe Disease. The natural history of Pompe disease is clear: patients will exhibit progressive muscle weakness. What is also clear after ten years of commercial treatment, and seven years of clinical trials before that, is that enzyme replacement therapy (ERT) slows or halts the disease process for most patients.

The ten-year anniversary of the approval of ERT is a chance to look back at how far we have come, and also to look towards the future and where we want to go. I think to truly understand where we are today, we need to go back even further than the last 10 years. We need to take a moment to remember the days and months and years before treatment was a reality. Before there were promising trials in the works.

Tiffany delivering her speech

I was diagnosed in January 1995. Can I see a show of hands – who was active in the Pompe field in 1995? Do you all remember what it was like back then? From the patient perspective Pompe was a deadly disease. It was progressive, and the only thing the patient, or their family, could do was try to treat the symptoms. We could only try to buy time by staying as healthy as possible, and treating symptoms as they arose. We could start non-invasive or invasive ventilation, transition to a walker, cane, or wheelchair. Try to manage the pain and weakness that became a constant reality. But we had the dream that one day there would be a treatment and we fought to survive long enough to see that day.

In 1999 that dream became a hope with the start of the trials at Erasmus University, and later that year at Duke University. It quickly became clear that these trials were working–the infants were surviving. The dream of a treatment was becoming a reality. But it would take another 7 years before that reality was here – it was in 2006 that we saw the approval of enzyme replacement therapy by the EMA and the FDA. 2006 was a great year for the Pompe Community. Most patients diagnosed after 2006 will never have to live in a reality where Pompe disease is untreatable. Unfortunately, for some patients that reality has not yet arrived. There are too many countries around the world that still do not have reimbursement schemes that allow patients to access treatment. New Zealand and China are the ones we all know about, but there are others as well: Scotland, Wales, and some states in Canada for instance. There are other countries where reimbursement is re-evaluated on a regular basis – right here in the Netherlands is an example. All of this means that we must remain ever aware and continue working until every Pompe patient in the world can access treatment and no one has to be afraid it will be taken away.

Reimbursement is just one potential hurdle to treatment access. Another one is supply. The IPA has advocated for a proactive approach to supply since the first trials. Patients’ lives depend on consistent access, and that is something that must be secured. The IPA’s position is that there must be a six-month supply for all patients available at all times.

In 2006 treatment was new and exciting, today it has become a part of life for many patients. And with familiarity we run the risk of becoming complacent. This is true for patients, which I will address next, but it is also true for the doctors who treat them, and the pharmacies and nurses that mix the medicine. Patients today receive treatments in a wide variety of ways. Some receive them at the hospital, some at out-patient treatment centers, some at home, some children are even receiving them while at school. While the treatment is not difficult to mix, it must be done with care. In the last few years the IPA has heard of several instances where it has been necessary to request re-training of the pharmacies that mix the medicine. A variety of factors can contribute to the need for a refresher course, such as staff turnover. But whatever the cause we must all remain vigilant and act whenever we hear of situations where a refresher course is warranted.

Over the last 10 years, as treatment has become a reality for most patients around the world, their focus has shifted. Today, instead of focusing on staying alive long enough for treatment to be a reality, they are asking: “What’s next?” We are all grateful for a treatment–most rare diseases don’t have a treatment available. But we are also aware that it isn’t the final answer. Fortunately, the Pompe community has not stopped looking for ways to further improve the quality of life of the Pompe patient. No one in this room took the approvals in 2006 and said okay, we’re done. No – you kept researching. You asked: How do we make a better treatment, a more effective treatment? How do we reach and diagnose patients sooner? Is newborn screening an option? How do we help patients best manage their symptoms? Over the course of this Conference we have heard the answers to some of these questions, and we have more presentations later today. It is an exciting time for the Pompe Community. 

But this excitement comes with complications. As the Chair of the International Pompe Association, and also the President of the Acid Maltase Deficiency Association, I hear from many patients all over the world. I hear about their daily concerns, their hopes, dreams, and fears for the future.

They want to know – do I need to plan for my condition deteriorating? Will I need ventilatory support at night? Will I need to adapt my bathroom? My home? What does the future hold – now that I have a future? It is the role of the patient organizations to support the patient community as they adapt to a new future – one they didn’t have 10 years ago. And one that is getting ever brighter with new treatments and therapies on the horizon.

In addition to thinking about the future in different terms than they did 10 years ago, a trend that we have noticed is that there seems to be a difference in attitude towards treatment in those who were diagnosed before 2006 and those who were diagnosed after 2006. In general, we have noticed that those who were diagnosed before 2006 go to any length possible to avoid missing an infusion. They lived in the time period where treatment was not a reality - they lived in a world where Pompe disease was a progressive, debilitating disease. Even though ERT isn’t a miracle cure they will go to every infusion and make it a priority in their life because they lived the alternative.

On the other end of the spectrum are patients who were diagnosed after 2006 – patients for whom treatment has always been an option. In these patients Pompe disease has become more of a chronic condition that they deal with than the progressive disease it is. If on treatment, for many patients the disease process is halted or reversed. But I believe that in many of these patients that has had the effect of decreasing their understanding of the underlying disease and the role infusions play. Skipping infusions, or not starting infusions even when they are clearly symptomatic is becoming more and more common. 

I see this as one of the challenges for all of us in the coming years, and one we will have to work together on. It is a great thing that we have a treatment and patients are feeling better and doing better. But we need to work together to make sure patients don’t take that for granted. We need to make sure that new patients truly understand what Pompe disease is – give them the benefit of our experience of living for years without treatment as an option so they never have to experience that. 

In addition, as patients live longer, and are relatively stable, they may experience some declines in strength and physical fitness that are age-related, and not Pompe related. How do we help them to understand the difference? How do we know the difference? 

Our reality today is so different than our reality 10 years ago. Today, it is a reality where treatment is here, and new options are on the horizon. A reality where our hopes and dreams aren’t treatment, but rather better treatment, gene therapy, muscle regeneration, and who knows what else? As I said earlier, it is an exciting time, and one I am proud to be a part of. 

To conclude, I would like to thank the Conference Organizers for inviting me to speak today. The three speakers in this Session represent the three main Stakeholders in the Pompe Community: Industry, the Medical/Scientific Community, and the Patient Community. Each one has a unique perspective as we have heard here today – and all need to be heard. When we all work together, Together We Are Strong. So in the coming years and decades, on behalf of the patient community, we look forward to working with all of you to create the best possible future for the Pompe Community. Thank you.