Milan, January 8, 2025 – A significant milestone has been achieved in the fight against late-onset Pompe disease. The Italian Medicines Agency (AIFA) has approved the reimbursement of Pombiliti® (cipaglucosidase alfa) and Opfolda® (miglustat), a therapeutic combination developed by Amicus Therapeutics, a biotechnology company dedicated to rare diseases.
This therapy, already approved by the European Commission in June 2023, combines long-term enzyme replacement therapy with an enzyme stabilizer to address symptoms and slow disease progression.
What is late-onset Pompe disease?
Pompe disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This deficiency leads to glycogen buildup in muscles, causing progressive muscle weakness and, in many cases, respiratory complications. The late-onset form, while less aggressive than the infantile form, still significantly impacts patients’ quality of life.
Pombiliti® and Opfolda®: a two-component solution
This approved therapy stands out for its innovative approach:
- Pombiliti® is a recombinant human enzyme designed for efficient uptake by muscle cells and activation to break down glycogen.
- Opfolda® acts as an enzyme stabilizer, ensuring greater enzyme availability over time.
Together, they offer a targeted treatment that may slow disease progression and improve patients’ quality of life.
A message of hope
Bradley Campbell, CEO of Amicus Therapeutics, emphasized the significance of this approval, stating: “Ensuring access to Pombiliti and Opfolda is a crucial step in supporting patients who need innovative solutions to manage this complex disease.”
Marco Totis, General Manager of Amicus Therapeutics Italy, added: “We thank Italian patients and researchers who made this therapy possible, and we will continue to work towards providing new therapeutic opportunities.”
A better future for patients
Thanks to this approval, the Pombiliti + Opfolda combination is now available in Italy for adults with late-onset Pompe disease. This marks a new chapter in managing this rare condition, offering a therapeutic option that combines innovation and patient focus.
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