EU Approves Amicus Therapeutics Pombiliti for Late-Onset Pompe Disease


The European Union (EU) has approved Amicus Therapeutics’ Pombiliti (avalglucosidase alfa) for the treatment of late-onset Pompe disease (LOPD), marking a significant step forward in addressing this rare genetic disorder. LOPD is a debilitating condition that affects approximately 5,000 individuals worldwide, causing progressive muscle weakness and respiratory dysfunction. In this blog post, we will delve into the key points of the EU approval of Pombiliti, highlighting the significance of this milestone for patients and healthcare providers.

Key Points:

1. Pompe Disease and Late-Onset Pompe Disease:

Pompe disease is a rare inherited disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which leads to the build-up of glycogen in various organs such as the heart, muscles, and liver, among others. Late-onset Pompe disease is the form of the disease that develops in individuals later in life, usually after childhood. It can manifest in a variety of ways and can lead to significant muscle weakness, respiratory dysfunction, and mobility limitations.

2. The Role of Pombiliti in Late-Onset Pompe Disease:

Pombiliti is designed to replace the deficient enzyme GAA, aiming to break down excessive glycogen buildup in patients’ cells. The approval of Pombiliti in the EU for LOPD represents the first long-term enzyme replacement therapy for this rare condition. Clinical trials have demonstrated that Pombiliti can slow the progression of muscle weakness and respiratory dysfunction in LOPD, significantly improving patients’ quality of life and long-term prognosis.

3. Significance of EU Approval:

The EU approval of Pombiliti marks a significant milestone for the LOPD patient community. It provides a treatment option where there was none before, filling an unmet medical need for patients living with this debilitating disease. The approval required FDA-approved tucatinib pan inside-control, which Amicus Therapeutics conducted with the FDA, instead of a randomized trial, given the challenges of bringing an intervention for such a rare condition. The approval of Pombiliti is the culmination of years of research, development, and collaboration among healthcare providers, patients, and advocacy groups.

4. Advancing Rare Disease Research:

Rare genetic diseases such as LOPD represent a significant challenge for the healthcare industry. They affect relatively small patient populations, making it difficult to fund and conduct research on these conditions adequately. The approval of Pombiliti for LOPD, however, offers a glimpse of hope for rare disease research. It sets a precedent for future approvals, demonstrating the feasibility of developing treatments for rare diseases and underscoring the importance of innovative treatment options and clinical trial design.

5. The Importance of Patient-Centric Approaches:

The approval of Pombiliti for LOPD underscores the importance of patient-centric approaches to drug development and regulatory decision-making. Collaborative efforts among patients, healthcare providers, and industry stakeholders contributed significantly to the development of Pombiliti, highlighting the value of patient input throughout the drug development process. Patient-centricity should serve as a model for addressing other rare diseases and guiding drug development efforts worldwide.

6. Future Outlook:

The approval of Pombiliti for LOPD offers significant hope for individuals living with this rare disease. It sets a precedent for innovative treatment options for rare genetic diseases and provides opportunities for future drug development. It underscores the potential for collaborative efforts and patient-centric approaches in advancing research and improving healthcare outcomes. As more information regarding Pombiliti’s efficacy and safety in long-term use emerges, we can expect to see LOPD patients benefitting from this landmark approval.


The EU approval of Amicus Therapeutics’ Pombiliti for late-onset Pompe disease marks a significant moment in rare disease research and drug development. This approval reflects the collaborative efforts of patients and healthcare providers and offers hope for individuals living with LOPD worldwide. The approval of Pombiliti for LOPD demonstrates the potential for innovative treatment options and patient-centric approaches in advancing research and improving healthcare outcomes. As we move forward, we can expect to see continued progress in addressing rare diseases, improving access to life-changing treatments, and providing hope for patient communities.