The long plateau

Following Hers discovery of lysosomal storage diseases - the second great milestone in the Pompe disease story - there followed a long period where there were no major advances. That's not to say that work was not being carried out. Research continued and small but important additions were added to our store of knowledge.

It was discovered that Pompe disease could affect older children and even adults (where it was at that time given the name acid maltase deficiency) with progressive muscle weakness but no heart enlargement. Diligent, essential work (such as that by Christa Loonen) described the 'natural history' of Pompe disease patients. There were important advances in related fields too - lysosomes became better understood and better molecular biology tools and techniques were developed. The world was moving on.

There were attempts at a treatment too. Soon after Hers discovered lysosomal storage diseases, it had been suggested that enzyme replacement therapy might be a potential treatment. As early as 1965, this was tried for Pompe disease, firstly using enzyme prepared from the fungus Aspergillis niger and later with enzyme derived from human placenta. All attempts failed; the enzyme was simply soaked up by the liver and did not reach the muscles.

I would like to make a tangential point here that I may return to later. It is often said by animal rights proponents that if scientists were not able to use laboratory animals, they would soon find alternative methods. Well, there was clearly a tremendous will amongst the scientific and medical community to find a treatment for Pompe disease, as evidenced by the pretty desperate attempts at enzyme replacement therapy. Yet for a quarter of a century, there was no progress. Looks like absence of animal models does not, after all, magically lead to progress by other methods.

But I digress. By the late 80s, the stage was set for the third great leap forward - one that would lead to a treatment for Pompe disease. Once again, it would take place in the Netherlands.

However, before I get to that, in the next instalment I'd like to leap ahead to 1993, with some personal background. It's an indulgence, I know, however it will also help me to tell the story.