EU Approves Amicus Therapeutics Pombiliti for Late-Onset Pompe Disease

Title: EU Approves Amicus Therapeutics Pombiliti for Late-Onset Pompe Disease


In a significant breakthrough for patients with Late-Onset Pompe Disease (LOPD), the European Union has granted approval for Amicus Therapeutics’ Pombiliti. This approval signifies a significant milestone in the availability of treatment options for individuals with this rare genetic disorder. In this blog post, we will explore the key points surrounding the EU’s approval of Pombiliti and its potential impact on the lives of those affected by Late-Onset Pompe Disease.

Key Points:

  1. Understanding Late-Onset Pompe Disease:
    Late-Onset Pompe Disease is a rare and progressive genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme plays a vital role in breaking down glycogen in the body’s cells. Without proper functioning GAA, glycogen accumulates in various tissues, leading to severe muscle weakness and other debilitating symptoms.
  2. The Significance of EU Approval:
    The European Union’s approval of Amicus Therapeutics’ Pombiliti represents a significant advancement in the management and treatment of Late-Onset Pompe Disease. Pombiliti is an enzyme replacement therapy designed to provide the missing GAA enzyme to patients with LOPD, thereby reducing glycogen accumulation and addressing the underlying cause of the disease.
  3. Efficacy of Pombiliti:
    Clinical trials have shown promising results for Pombiliti in treating Late-Onset Pompe Disease. The therapy demonstrated significant improvements in muscle strength, respiratory function, and overall quality of life for patients. The EU approval confirms the safety and efficacy of Pombiliti, providing hope for individuals diagnosed with LOPD.
  4. Addressing Unmet Medical Needs:
    Late-Onset Pompe Disease is a devastating condition that impacts patients’ daily lives and their ability to perform basic tasks. Until now, treatment options have been limited, with no approved therapies available in the EU specifically for LOPD. The approval of Pombiliti fills an unmet medical need by providing patients with a targeted treatment option.
  5. Enhancing the Standard of Care:
    The EU’s approval of Pombiliti sets a new standard of care for patients with Late-Onset Pompe Disease. It offers healthcare providers and individuals with LOPD a viable treatment option to address the underlying cause of the disease and potentially slow its progression. The availability of Pombiliti brings new hope and improved outcomes to the LOPD community.
  6. Access and Affordability:
    While the EU approval of Pombiliti is a significant step forward, ensuring access and affordability of the therapy for all eligible patients remains essential. Collaboration between Amicus Therapeutics, regulatory authorities, and healthcare systems will be crucial to ensure that Pombiliti reaches those in need without unnecessary barriers.


The EU’s approval of Amicus Therapeutics’ Pombiliti for Late-Onset Pompe Disease marks a major milestone in the treatment of this rare genetic disorder. With Pombiliti, patients now have a targeted therapy designed to address the underlying cause of LOPD and potentially improve their quality of life. This approval not only brings hope to individuals and their families but also represents progress in advancing the standard of care for rare diseases. As efforts continue to improve access and affordability, the availability of Pombiliti offers new possibilities for the LOPD community and sets an example for future advancements in the field of rare disease treatments.