When the EMA approved a new treatment for a rare, inherited lysosomal storage disorder, Fabry disease earlier this year, it was a crucial moment for both Amicus Therapeutics and its founder John Crowley.
“We have been on a 10-year journey at Amicus but this approval completes our transformation to a global, fully-integrated, commercial biotechnology company focused on rare and devastating diseases,” he says. “It is also a significant advancement in the field of precision genetic medicine and a tremendous milestone for the Fabry community.”
The journey to the approval of Galafold may have taken a decade but Crowley himself has been on the road for even longer. “My family and I have been on this journey for 20 years; I came into biotech in a very personal way when, in March 1988, two of my children were diagnosed with a rare disorder called Pompe disease. Megan was 15 months old and Patrick only seven days old, and we were told that nothing could be done, that they would only live a few years.”
Pompe disease is a severe neurological disorder, one of many lysosomal storage diseases, where the energy molecule glycogen accumulates inside the cells and leads to progressive muscle weakness throughout the body, particularly in the heart, skeletal muscles, liver and nervous system.
“Very quickly my wife and I went from shock and denial to determination to do something to try to change the course of the disease,” says Crowley. “At first, we raised a little money for a not-for-profit but soon realised we needed to become entrepreneurs.”
After a brief stint at Bristol-Myers Squibb, Crowley started a small biotech company, Novazyme Pharmaceuticals, using a home equity loan. A few years later the company was acquired by Genzyme and Crowley headed up the development programme that resulted in the life-saving enzyme replacement therapy (ERT), Myozyme (alglucosidase alfa).
While Amicus’ first drug approval is for a treatment for Fabry disease, also a rare genetic lysosomal storage disease, the company has high hopes for its pipeline Pompe therapies. “There are a number of deficiencies with standard care, Genzyme’s ERT. We saw with our kids – and with many others patients – that they would improve for a while then plateau and then begin to decline.”
Consequently, the Amicus scientists decided to develop their own enzyme and to co-administer it with a chaperone drug that stabilises the enzyme in the blood and ensures it reaches the muscle cells in a much more active form.
“With each of our drugs, the goal is to significantly improve a patient’s life. We are now in clinical studies in Pompe patients and we’re very hopeful it could be a profoundly different medicine.”
To learn more about Crowley’s personal battle against Pompe disease, the Hollywood movie mentioned earlier is Extraordinary Measures, starring Brendan Fraser and Harrison Ford.
