According to News Medical, researchers from the University of Cincinnati presented findings on a potentially new and effective treatment option for Pompe disease at the virtual American Academy of Neurology Annual Meeting. Currently, Pompe disease is treated via enzyme replacement therapies. Specifically, patients receive Myozyme (alglucoside alfa). However, researchers now believe that another enzyme replacement therapy called avalglucosidase alfa could improve patient outcomes and offer an improved standard of care.

Avalglucoside Alfa

In patients with Pompe disease, GAA gene mutations prevent the body from creating a protein that breaks down glycogen. As a result, glycogen accumulates, causing muscle and organ damage. Enzyme replacement therapy allows for patients to receive the enzymes and proteins needed to help break down this glycogen, relieving symptoms and improving patient survival rates.

Now, researchers believe they have discovered a more safe, effective, and well-tolerated enzyme therapy than the current standard of care. According to Dr. Hani Kushlaf, MD, the researchers held a clinical trial to evaluate avalglucoside alfa versus alglucoside alfa. Because the trial was double-blind, neither patients nor researchers knew who was receiving which treatment. Ultimately, 51 patients with Pompe disease received avalglucoside alfa. Researchers determined that this enzyme replacement therapy:

• Improved endurance, muscle strength, and respiratory muscle function
• Heightened quality of life (QOL)

Pompe Disease

An estimated 1 in every 40,000 Americans has Pompe disease, a genetic disorder caused by GAA gene mutations. When glycogen accumulates within the body’s cells, it causes issues with muscle, organ, and tissue function. Most often, this negatively affects the heart and respiratory muscles, causing potentially dangerous or fatal side reactions.

Altogether, there are three main forms of Pompe disease:

• Infantile-onset. In the infantile-onset form, symptoms usually appear within a few months (~3) following birth. Altogether, this is the most severe form of this condition. Without treatment, the infantile-onset form could be fatal within 2 years. Symptoms include:
  • Liver enlargement
  • Low muscle tone
  • Muscle weakness
  • Heart defects
  • Failure to thrive
  • Feeding difficulties
  • Hearing loss
  • A large, protruding tongue
  • Difficulty breathing
• Non-classic infantile-onset. In the non-classic infantile-onset form, symptoms usually become apparent around 1 year old. Unlike the infantile-onset form of Pompe disease, patients with the non-classic infantile-onset substance do not usually experience as much heart failure. Without treatment, this form may be fatal before early childhood. Symptoms include:
  • Progressive muscle weakness
  • Enlarged heart
  • Respiratory distress
  • Slow motor development
• Late-onset. In this final form, symptoms often fail to appear until adulthood. Generally, this form does not involve the heart, though patients may experience respiratory failure. Other symptoms include:
  • Progressive muscle weakness
  • Difficulty breathing, chewing, or swallowing
  • Scoliosis
  • Drooping upper eyelids
  • Blood vessel abnormalities

Learn more about Pompe disease.