Transforming Pompe Disease Care: Latest Innovations and Strategic Advances in Treatment

Pompe disease is a rare genetic disorder that presents a spectrum of severity, with varying rates of progression and ages of onset. Symptoms can appear anywhere from infancy to late adulthood, with earlier onset generally associated with more rapid progression and increased severity. At all ages, the disease is marked by skeletal muscle weakness, leading to mobility issues and respiratory complications. Pompe disease prevalence spans different ethnic groups worldwide, with an incidence rate of approximately 1 in 40,000 births in the United States and the Netherlands. According to DelveInsight, there were about 13,000 total prevalent cases of Pompe disease in 2023, with the EU4 and the UK accounting for 25% of these cases. In the United States alone, an estimated 8,600 people were diagnosed with Pompe disease in 2023, with 98% of cases occurring in adults. Notably, around 80% of infantile-onset Pompe disease cases were CRIM-positive, a phenotype characterized by some residual enzyme activity that can affect disease progression and response to treatment.

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Several Pompe disease therapies are currently approved to manage the condition. MYOZYME (alglucosidase alfa), developed by Genzyme/Sanofi, was the first Pompe disease drug to receive FDA approval in 2006 for treating infantile-onset Pompe disease (IOPD). Similarly, LUMIZYME (alglucosidase alfa), also from Genzyme/Sanofi, was approved in 2010 to treat late-onset Pompe disease (LOPD) in patients over eight years old, offering an exogenous source of GAA to combat glycogen buildup. In the realm of emerging Pompe disease therapies, ACTUS-101 by Asklepios Biopharmaceutical is an innovative gene therapy aimed at correcting GAA deficiency through AAV technology, addressing the underlying cause of the disease. Additionally, Avalglucosidase alfa (Nexviazyme), another Sanofi product, is a recombinant form of GAA designed to enhance glycogen digestion and absorption, offering a promising new Pompe disease treatment for patients with LOPD.

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Current Commercial Strategies and Innovations in Pompe Disease Treatment

While the search for a cure continues, advancements in Pompe disease drugs and therapies are evolving. The treatment landscape has seen significant developments over recent months, with new and emerging drugs reshaping the Pompe disease market and bringing hope to patients and their families.

September 2024

A groundbreaking noninvasive imaging technique, multispectral optoacoustic tomography (MSOT), was discovered to outperform standard methods like MRI and ultrasound in visualizing diseased muscles in individuals with late-onset Pompe disease. This technique uses light and sound waves to provide a detailed view of deeper muscle layers, offering a more precise way to monitor the condition. Researchers highlighted that the integration of MSOT imaging could reduce the need for invasive procedures, potentially transforming Pompe disease treatment approaches.

July 2024

The Alabama Department of Public Health (ADPH) introduced Pompe disease and Mucopolysaccharidosis Type I (MPS I) into its newborn screening panel. This addition is expected to help in the early diagnosis of Pompe disease through a simple blood test, enabling timely interventions that can prevent the severe symptoms from manifesting. By catching the disease early, newborns have a better chance at normal development.

A study conducted in Mexico revealed that Pompe disease patients carried GAA gene mutations associated with both infantile and adult-onset Pompe disease. This genetic diversity reflects the population’s broad mutation spectrum, and researchers suggested that further studies are necessary to better characterize Pompe disease prevalence in Mexico.

Meanwhile, Roche made headlines by discontinuing the development of its gene therapy SPK-3006 for late-onset Pompe disease. Initially acquired through its 2019 purchase of Spark Therapeutics, the program was part of a larger effort to explore gene therapies for Pompe and other genetic diseases. This decision follows a similar discontinuation of another Spark program in 2023, as Roche continues to evaluate its strategic focus.

In another major move, Crosswalk Therapeutics acquired gene therapy compounds for Pompe disease and Fabry disease from Codexis. These compounds were initially part of a collaboration between Codexis and Takeda, which was discontinued as Takeda shifted away from early-stage AAV gene therapy research.

June 2024

At the New Directions in Biology and Disease of Skeletal Muscle Conference, Dyne Therapeutics showcased preclinical data on its FORCE platform, which demonstrated the potential to deliver enzyme replacement therapy (ERT) directly to skeletal and cardiac muscles as well as the central nervous system (CNS). This breakthrough represents a promising future for Pompe disease therapies that target multiple affected areas in the body.

Amicus Therapeutics earned the prestigious Prix Galien U.K. Award for Best Pharmaceutical Product for its two-component therapy, Pombiliti + Opfolda. This combination therapy is specifically designed for adults with late-onset Pompe disease (LOPD), offering an innovative approach for patients who haven’t responded well to previous treatments.

May 2024

In a major licensing deal, Shionogi & Co., Ltd. secured the rights to MZE001, an oral glycogen synthase 1 (GYS1) inhibitor aimed at treating Pompe disease by limiting glycogen buildup. This agreement came on the heels of Sanofi’s failed attempt to acquire the asset, following a Federal Trade Commission (FTC) ruling that blocked the deal on antitrust grounds. The FTC argued that the acquisition would have eliminated competition and preserved Sanofi’s dominant position in the Pompe disease market.

April 2024

Asklepios BioPharmaceutical continued evaluating its gene therapy, ACTUS-101, for late-onset Pompe disease (LOPD). This Pompe disease therapy, which aims to address GAA enzyme deficiency, has been under investigation since 2019. Although updates on the trial have been sparse, the therapy remains active and is not currently recruiting.

December 2023

In late 2023, Sanofi made headlines by abandoning its proposed licensing deal with Maze Therapeutics after the FTC intervened, citing antitrust concerns. The agreement would have given Sanofi access to MZE001, Maze’s investigational therapy targeting Pompe disease, but the FTC argued that the acquisition would hinder competition in the Pompe disease treatment space and prevent innovation. Sanofi’s decision to walk away from the deal underscores the complexity of navigating the competitive Pompe disease drug landscape.

September 2023

The FDA approved Amicus Therapeutics for its two-component therapy, POMBILITI (cipaglucosidase alfa-atga) + OPFOLDA (miglustat), for adults with late-onset Pompe disease (LOPD). This approval marked a major milestone for Amicus, offering a new option for patients who have not responded adequately to existing ERT. Pompe disease therapies continue to evolve, and this two-component approach represents a significant advancement for the Pompe disease market.

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Conclusion

The journey of Pompe disease therapies has been nothing short of transformative, with constant breakthroughs and scientific discoveries shaping the horizon. From the development of enzyme replacement therapies like MYOZYME and LUMIZYME to emerging gene therapies such as ACTUS-101 and the innovative two-component therapy, POMBILITI + OPFOLDA, the medical community has been relentless in its quest to combat this rare disease. As the competition among pharmaceutical giants intensifies and new technologies like MSOT imaging emerge, the future holds incredible promise for those affected by Pompe disease. The recent regulatory and commercial activities underscore a new era in Pompe disease treatment—a time where early diagnosis, personalized gene therapies, and global collaborations are redefining the standard of care. For patients and families, these advancements fuel the hope that tomorrow’s Pompe disease therapies will offer a longer, healthier future.