2019 marks the 20th anniversary of the first successful enzyme replacement therapy (ERT) trials for Pompe disease (also known as acid maltase deficiency, and glycogen storage disease type 2). These trials ultimately culminated in the approval of a treatment for Pompe in 2006 that has reached most patients worldwide. While this treatment is not a cure, it is an important step in the treatment of Pompe disease.

Progress over the years

When I was diagnosed in 1995, Pompe was terminal. The only thing patients could do was try to treat the symptoms of Pompe and buy time by staying as healthy as possible. We dreamed that one day a treatment would be discovered, and we fought to survive long enough to see that day.

In 1999, ERT trial treatments began at Erasmus University in the Netherlands, and later that year at Duke University in the United States. It quickly became clear that these trials were working. The hope of a treatment was becoming a reality, but it would take another 7 years before that reality was here. Most patients diagnosed after 2006 will never have to live in a reality where Pompe is untreatable. 

The future of treatment

While treatment was new and exciting in 2006, today it has become a part of life for most patients, and our focus has shifted. We are all grateful for a treatment— most rare diseases don’t have one. But we are also aware that it isn’t the final answer. We have not stopped looking for ways to improve the quality of life for Pompe patients. We have an excellent medical community that is continually working to design more effective treatments and diagnose patients sooner. Our new reality is one in which we can look forward to better treatment, gene therapy, muscle regeneration and other technologies that are still over the horizon.