Fabry disease is an inherited lysosomal storage disorder caused by deficiency of an enzyme called alpha-galactosidase A (alpha GalA), which is the result of mutations in the GLA gene. Pompe disease also is an inherited lysosomal storage disorder, caused by the deficiency of a different enzyme, called acid alpha-glucosidase (GAA).
According to the United Pompe Foundation, Pompe is very rare, with an estimated incidence of one in every 40,000 live births. The estimated frequency of Pompe disease may vary among different ethnic groups and nationalities. In African-American populations, for example, the disease is estimated to affect one in every 14,000 live births, while among Caucasian populations the disease is estimated to affect only one in every 100,000.
Worldwide, the total number of people living with Pompe disease is estimated to be somewhere 5,000 to 10,000.
“In the Amicus spirit of friendship, we join the Fabry and Pompe disease communities in supporting several activities to drive awareness during the month of April,” John F. Crowley, chairman and CEO of Amicus, said in a press release. “Each day at Amicus, through our research and development efforts as well as our broader, employee-driven Healing Beyond Disease initiatives, we seek to bring innovation and hope to all people living with rare metabolic diseases,” Crowley said.
Healing Beyond Disease is an initiative implemented by Amicus to enhance and expand the company’s positive effect on people living with rare diseases. The program was launched earlier this year and comprises elements of volunteerism, mentorship, philanthropic giving, innovation and accessibility.
As part of this initiative, Amicus was present at the United Pompe Foundation’s 7th Annual Late-Onset Pompe Disease Patient Meeting, which was hosted by the Duke Pompe Disease Clinical and Research Program on April 6-7. International Pompe Day was April 15.
Amicus also will attend the Annual Fabulous Fabry Females Meeting at Emory University, in Atlanta, Georgia, on April 22, where representatives will be available to inform attendees about their program, as well as about two new educational websites launched by Amicus specifically targeting the Fabry community: FabryFacts and FabryConnect.
Amicus is developing its lead biologics program (ATB200/AT2221) as a new, late-stage potential best-in-class treatment paradigm for Pompe disease. The candidate is a novel treatment paradigm that consists of a uniquely engineered recombinant human acid alpha-glucosidase (rhGAA) enzyme with an optimized carbohydrate structure (designated ATB200). It is administered with a small molecule pharmacological chaperone (designated AT2221).
Amicus has an ongoing open-label, dose-escalation Phase 1/2 clinical trial (NCT02675465) evaluating if the co-administration of intravenous ATB200 and oral AT2221 is safe in patients 18 to 65 years with a diagnosis of Pompe disease. The trial is active and recruiting patients. The study is estimated to be completed in September 2019.