April 15 is International Pompe Day. It’s a day that we celebrate as a community, and so we should. This is the sixth year since its inception. We’ve seen some important milestones in those six years.

In March 2015, Pompe disease was added to the Recommended Uniform Screening Panel (RUSP) in the US. Since that time, more and more states have included it on their panels. NewSTEPS has a great map for coverage in the US.

Where genetic testing used to be something we dreamed of, it has now become commonplace. It’s another diagnostic tool and it even gives an opportunity to do family planning for those that choose to.

You can’t count the number of companies working on Pompe treatments on two hands anymore. That’s an incredible change. Not very long ago there wasn’t even one. Some of these companies bring experience from similar disease areas so they aren’t starting from scratch.

So, why are patients still dying?

Out of about 60 Pompe patients in Canada, we have lost at least 7 in the last three years. Since Pompe is underdiagnosed, I feel confident in saying there are others we don’t know about. Regardless, that’s over 10% in three years. Is that good enough? Not even close.

Newborn screening

Let’s ask ourselves why the US, or any country, would go to the trouble and expense required to add a condition like this to newborn screening panels? I’m not going to get into whether the Wilson and Jungner Criteria are still valid, or whether political pressure or other factors come into play. Those are distractions. The question still begs for an answer. Not because we don’t screen for Pompe in Canada, but because patients are still dying. If we don’t diagnose them that won’t change.

We do have improved diagnostics. With the availability of an easy dried blood spot test, there’s no reason not to check for Pompe disease. As more patients are diagnosed, more healthcare providers gain experience and have it on their radar. But relying on someone to rule out all the more common disorders first, and then eventually get to Pompe, causes delay. Delay of diagnosis causes delay of treatment. We know for infantile Pompe in particular that days matter. In New York State, where they do newborn screening for Pompe, they’re able to start treatment within 5-7 days of birth. Why is that not happening everywhere?

Better treatments

The current standard of care is a biweekly infusion of alglucosidase alfa. CADTH’s CDR report was issued in 2007. The FDA had already approved it at that point. So answer me this. That was 12 years ago and we still have only one therapy available. No therapeutic options. No second generation treatments. Where are they? Don’t get me wrong. Alglucosidase alfa (Myozyme) has saved lives, mine included. But it’s a first generation treatment. It’s going to naturally get replaced by better options. So let’s get on with it.

International Pompe Day seems to fill me more with questions this year than anything else. Why aren’t we able to treat infantile Pompe babies within 5-7 days of birth like they can in New York? Why don’t we have new treatment options by now? Why are patients still dying? Is anyone listening?

Tagged: Awareness, Int’l Pompe Day