Recently, Chairman and CEO of Amicus Therapeutics John Crowley sat down with Rare Disease Report to discuss Amicus’ clinical and patient programs they have in place to improve the lives of people with various rare diseases. In this video clip, John provides an update on the company’s clinical studies (in collaboration with GlaxoSmithKline) for Fabry disease as well as an explanation why some patients with Fabry disease will likely benefit from taking their chaperone drug migalastat as monotherapy while others will require the chaperone drug to be coadministered with an enzyme replacement therapy (ERT).
For more information about Amicus and their clinical trials, visit http://www.amicusrx.com/clinical.aspx
Fabry disease is an X-linked lysosomal storage disorder that leads to excessive deposition of glycosphingolipids throughout the body. Skin, eye, kidney, heart, brain, and peripheral nervous system are highly vulnerable. Fabry disease is often difficult to diagnose since signs and symptoms are often nonspecific. For example, common symptoms may be fatigue, neuropathy (in particular, burning extremity pain), cerebrovascular effects leading to an increased risk of stroke, tinnitus (ringing in the ears), vertigo, nausea, inability to gain weight, chemical imbalances, diarrhea etc. Symptoms do appear in childhood but often go undiagnosed for several years. As the disease progresses, most patients with Fabry disease die in their fourth or fifth decade due to complications arising from renal or cardiovascular problems. Currently, the only orphan drugs available for patients with Fabry disease are ERTs, including Genzyme’s Fabrazyme and Shire’s Replagal.
Watch the full interview here.