In Pursuit of Miracles – Amicus Therapeutics

It takes real dedication to chase miracles; to do what no other company has done – to cure those who have no cure. The people of Amicus Therapeutics chase miracles every day. They believe in each other and more importantly, they passionately believe in the fight. The fight to find treatment, even cures for rare and orphan diseases.


This just in; Amicus Therapeutics announced approval of their oral precision medicine for Fabry disease in Australia, which marks a significant step forward. The oral medicine “Galafold” is for long-term treatment of adults and adolescents (aged 16+ years) with a confirmed diagnosis of Fabry disease).


At the forefront, Amicus Therapeutics seeks to develop advanced therapies for the treatment of rare and orphan diseases. They have several late-stage product candidates, including one for treating individuals with Fabry disease.


Imagine, if you will, being rushed to the emergency room after experiencing severe difficulty breathing, fully expecting to return home after treatment. But instead, you’re admitted and told you may never be able to go home again. Finding out the doctors you put your trust in had misdiagnosed your condition for nearly a decade. Finding out you have Pompe disease, a severe and often fatal neuromuscular disorder, which has no treatment… no hope for a cure…


Pretty devastating.


John F. Crowley is the company Chairman and CEO (Facebook). When not one, but two of his children were diagnosed with Pompe disease, he fought to develop a cure for them. Pompe disease is a Lysosomal Storage Disorder (LSD) which results in an enzyme, GAA, disorder. John left his position at Bristol-Meyers Squibb and co-founded Novazyme Pharmaceuticals. At the time, Novazyme was researching a new experimental treatment for Pompe disease. John felt that using the Novazyme’s treatment had saved his children’s lives. Even Hollywood had taken notice of Crowley family ordeal, making a major movie, Extraordinary Measures, based on the family trials and tribulations.


Another rare genetic disorder that Amicus Therapeutics is pushing for a treatment is Epidermolysis Bullosa (EB). It shows up as a blistering or cratering of the skin and can blister or erode other internal organs, eventually causing death. The skin tears from the slightest trauma (Crunchbase). Managing pain and infection is the only current treatment – Amicus hopes to change that.


Amicus Therapeutics is hard at work making the world a better place one patient at a time. More at