According to a publication from Fabry Disease News, Amicus Therapeutics has as many as 14 investigational drugs currently in development for the treatment of rare diseases including Fabry, Pompe, and Batten diseases. Other rare conditions, including Niemann-Pick disease Type C and mucopolysaccharidoses, are also represented, with treatments for them in Amicus’ developmental pipeline also.

Amicus Therapeutics, a New Jersey-based biopharmaceutical company, is continuing to develop these drugs following the recent FDA approval of the Company’s Fabry disease treatment Galafold (migalastat).

About Fabry, Pompe, and Batten Diseases

• Fabry disease is characterized by the build-up of fatty molecules in cells throughout the body. Mutations to the gene GLA lead to deficiencies in a particular enzyme that normally breaks down globotriaosylceramide. These fats would normally be broken down and absorbed by the cells, but in patients with Fabry disease, these molecules accumulate over time posing potentially serious health consequences.
• Pompe disease is similar to Fabry disease in that it’s caused by a deficiency in a particular enzyme. The enzyme, acid alfa glucosidase (GAA), normally breaks down complex sugar molecules that circulate around the body. In patients with Pompe disease, however, these sugars instead remain in the body where they build up and can cause serious health problems.
• Batten disease is actually a bit of a misnomer, since Batten “disease” is actually a class of several closely related conditions. Unlike Fabry and Pompe diseases, Batten disease is caused by inherited genetic defects that lead to cascading problems with cell recycling. These illnesses are varied in their causes, prognosis, and progression.

Drugs in the Pipeline

Amicus’ CEO, John Crowley, recently gave an interview at Amicus’ headquarters where he detailed some of the advances his company was pushing in the treatment of Pompe and Batten diseases.

AT-GAA is an investigational treatment for Pompe disease being developed at Amicus. The upcoming phase 3 study of AT-GAA is going to test the drug in up to 100 participants from over two-dozen countries.

Amicus also plans on holding an upcoming phase 1/2 trial of an investigational Batten disease gene therapy in children aged 3-10.

The aggressive push to bring storage disease drugs to market was only encouraged by the recent accelerated approval of the Company’s Fabry disease treatment, Galafold. Some estimates suggest that as many as 1,000 patients may be prescribed Galafold by the end of the year.

“I would put it on par with the first human heart transplant,” Crowley said of Galafold. The ability to “[potentially] cure a child of a fatal human genetic disease” has been “the hope and the dream for a long time in this field.”

What do you think of these exciting developments? Why do you think companies tend to research certain specific types of medication, such as those for lysosomal storage diseases? Share your thoughts with Patient Worthy!