I’m sitting in the infusion center – The Ambulatory Treatment Center (ATC) – at Sierra Nevada Memorial Hospital receiving my 21st infusion of Nexviazyme and my 258th enzyme replacement therapy (ERT). Today also marks the completion of my 10th year of ERT. It was May of 2012 when, after living 26 years with a diagnosis of some non-specific variant of Muscular Dystrophy, we learned that I didn’t, in fact, have MD. Rather, I had been living with a rare neuromuscular disease called Late Onset Pompe Disease … also known as Glycogen Storage Disease Type II … also known as Acid Maltase Deficiency. For a condition that virtually no one had heard of, it sure had a lot of names. The months between May and September 2012 were spent locating an infusion center that would administer enzyme replacement therapy, getting insurance authorizations, and trying to wrap my head around the fact that my life was about to change dramatically.
The process that led me to this new diagnosis was set in motion by the latest wave of muscular decline I’d been experiencing over the preceding year or two. I was going down fast. The discovery that I had Pompe Disease and the commencement of enzyme replacement therapy (initially with Lumizyme) saved my life. And I don’t use the phrase metaphorically. Had we not learned about Pompe Disease and started ERT, I’m quite confident I wouldn’t be alive today.
I won’t reiterate the long complicated and confusing path to diagnosis here. I’ve laid a lot of that out in other parts of the site. If you’re just tuning in and are interested in the background, feel free to catch up by clicking HERE.
Since transitioning from Lumizyme to Nexviazyme last November, I’ve had quarterly meetings with my Pompe Disease specialist at the University of California Davis Medical Center (UCDMC) in Sacramento. Last week, on August 9th, we had our most recent check-in.
My Nexviazyme infusions started with the same rates I’d been using with Lumizyme for the preceding nine years. For the medical dweebs out there … or for fellow Pompe patients who pay attention to details like infusion rates … that rate structure was as follows:
- 30 mL/hr x 15 minutes
- 90 mL/hr x 15 minutes
- 150 mL/hr x 15 minutes
- 210 mL/hr for remainder
In early April, after receiving 10 Nexviazyme infusions, and after having no adverse effects from the new medication, we increased my infusion rates to the following, with the intention to revisit in another 3 months.
- 50 mL/hr x 15 minutes
- 100 mL/hr x 15 minutes
- 175 mL/hr x 15 minutes
- 225 mL/hr for remainder
As with our visit in April, our intention for our latest visit, assuming that I’d still had no adverse reactions, was to make another rate adjustment. My doctor’s long-term intention is to start my infusions at my maximum rate and administer my entire infusion at a single rate. If/When we achieve that goal, we will have reduced the overall time of my infusions from about 4.5 hours to about 2 hours.
Today, we’re implementing the next step in this transition. Beginning today, my infusion rates are as follows:
- 100 mL/hr x 15 minutes
- 175 mL/hr x 15 minutes
- 225 mL/hr for remainder
We’re eliminating the initial 15-minute rate of 50 mL/hour and starting at 100 mL/hour. We expect this change to reduce my current infusion time by about 15 minutes.
Also, since making the transition from Lumizyme to Nexviazyme, my Pompe specialist has asked that I remain at the infusion center for an hour-long observation period after each infusion. This is out of an abundance of caution to insure that I don’t have a reaction to the medication. Since I’ve now completed nine months of Nexviazyme treatments without incident, my observation periods will be eliminated entirely after four more infusions at these new rates.
We’ll meet again in November and, assuming all continues to go well, we’ll take the next step towards one consistent rate for my entire infusion.
But there was even better news to come from my recent visit with my Pompe doctor!
At our visit, my doctor asked if I was familiar with the FORTIS study currently underway by the Astellas company (formerly Audentes).
I’ve been a patient speaker for Sanofi-Genzyme for years. A few years ago, based on a referral from the United Pompe Foundation, I was approached by Audentes and invited to speak with their team about my experience living with Late Onset Pompe Disease. My sister and I made a trip to San Francisco just before Thanksgiving 2018 and spent a wonderful day with the Audentes team. It was there that I learned about the research they were doing on the next-generation treatment for Pompe Disease – Gene Therapy.
Gene Therapy, if and when it is approved, would involve a single infusion to Pompe patients. The infusion would introduce a virus to the patient’s system that has had it’s genetic code removed and replaced with a healthy genetic vector that would spread, like a virus, through the Pompe patient. In essence, as the virus spreads, it introduces the new healthy genetic vector to the patient, superseding the mutated genetic code and causing the body to begin to produce the deficient GAA enzyme. It is the deficiency of the GAA enzyme that produces Pompe Disease. Pompe patients receive enzyme infusions, usually every two weeks, to supplement our bodies with the deficient GAA enzyme. As I mentioned at the top of this entry, today marks the 258th enzyme infusion that I’ve received over these past ten years. If Gene Therapy is successful, Pompe patients would theoretically receive one corrective infusion that would trigger our bodies to begin producing the GAA enzyme on our own. If effective, we would no longer require supplemental enzyme replacement therapy!
In the time since meeting the Audentes Team in 2018, I’ve been invited to meet with their team a few more times – virtually during the Coronavirus Pandemic. Over that time, Audentes has become Astellas and has launched the FORTIS study – the Phase I clinical trial for Gene Therapy. In fact, a couple of months ago, I was invited to work with Astellas to produce a video greeting to be played at the grand opening of their North Carolina-based facility that will be producing the forthcoming Gene Therapy infusions.
So yes. When my Pompe doctor asked if I was familiar with the FORTIS study, I told her I was very familiar with Gene Therapy, with the Phase I clinical trial, and with Astellas, who is sponsoring the study.
My Pompe doctor told me that she feels I’m an ideal candidate for the Phase II FORTIS study and asked if I’d be interested in connecting with the team running Phase I. Naturally, I was thrilled and gave an emphatic YES!
There are a lot of unknowns between here and there. The Phase I trials end in December of this year. We don’t know how long it will be between Phase I and Phase II. We don’t know if I’d be accepted into the Phase II trials. But having my doctor say that I’m “an ideal candidate” for this ground-breaking treatment is pretty exciting!
But on this day, as I mark the end of my tenth year of enzyme infusions … as I reflect on ten years of life that I’m quite certain I wouldn’t otherwise have had … as I experience a positive adjustment in my infusion rates on the newest FDA-approved treatment for Pompe Disease – Nexviazyme … and as I consider the exciting possibilities ahead of me with the forthcoming Gene Therapy treatments … I can’t help but be filled with wonder and hope.
Ten years ago, when I was diagnosed with Pompe Disease, there was only one treatment available in the US and it had just been FDA-approved in the preceding few years. Now, ten years later, there are two approved enzyme replacement therapies with a very promising third treatment in the pipeline. And Gene Therapy, which seemed like science fiction ten years ago, is now in clinical trials and on track to be a viable life-changing treatment for Pompe patients in the very near future. And miraculously, the prospects to access these exciting innovations keep showing up on my doorstep!
Those of us who live with Pompe Disease use the word “HOPE” a lot. For a community that lives with a very challenging condition … and that has witnessed many of our Pompe Family falter and perish to the ravages of this disease … we are a remarkably positive and hopeful Tribe. We live in hope that we will see a better day. We live in hope for our fellow Pompe Warriors who we know and love. We live in hope that science will continue to make advancements to improve our chances of survival. We live in hope that newborn babies diagnosed with Pompe Disease will have effective options to prevent them from having to live with the physical challenges and decline that those before them have faced. Most of all, though, we live with the hope that a cure for this unkind disease is on our horizon.
This past year has shown me that our hopes are not in vain. All of these things are happening. The future for Pompe patients is more hopeful than ever.
As always, thanks for following along with one Pompe Warrior’s journey. Feel free to leave comments or questions. Sharing my story has been a way to turn a pretty rough road into something positive.
Let Hope Flow!