Pompe disease (Glycogen storage disease type II)
About
Pompe disease is caused by mutations in the GAA gene that lead to a deficiency of acid alpha-glucosidase and accumulation of glycogen in lysosomes. The infant type is serious, and the late type is mainly manifested as progressive muscle weakness. Core dilemmas: ① If infants are not treated, they will die of cardiopulmonary failure within one year of age;② Enzyme replacement therapy requires lifelong intravenous infusion;③ERT has limited effect on skeletal muscles;④ Induction of immune tolerance is crucial for patients with high antibody titers.
Features & Symptoms
- GAA gene mutation
- Acid alpha-glucosidase deficiency
- Infant type: myocardial hypertrophy, muscle weakness
- Late onset: Respiratory muscle weakness
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| Alglucosidase alfa | Recombinant acid alpha-glucosidase, infused intravenously every 2 weeks, is the standard enzyme replacement treatment for Pompeii disease. | FDA批准 | $300K - $600K/年 |
| Avalglucosidase alfa | A new generation of recombinant enzymes has higher M6P content and has a better effect on skeletal muscle. | FDA批准 | $350K - $700K/年 |
| immune tolerance induction | For patients with high titers of antibodies, immune tolerance induction is needed in combination with immunosuppressants (rituximab + methotrexate). | 临床应用 | $100K - $250K/疗程 |
Prognosis
Infantile-onset ERT can survive into adulthood, and late-onset ERT can delay progression
Additional Notes
Notes: Neonatal Screening: It is recommended to conduct neonatal screening for Pompeii disease. Early ERT can significantly improve the prognosis of infants; Antibody monitoring: CRIM status and antibody titers need to be monitored regularly after ERT, and CRIM negative patients need immune tolerance induction; Cardiac monitoring: Infant patients need to monitor myocardial hypertrophy regularly by cardiac ultrasound and electrocardiogram; Respiratory management: Lung function needs to be monitored regularly, and non-invasive ventilation can be used when ventilation is insufficient at night; Exercise rehabilitation: Regular exercise rehabilitation can improve muscle strength and exercise function.; Exclusive service commitment: The platform will allocate a dedicated medical team to each patient to assist in dismantling and properly deploying the following precautions throughout the process. When cross-state and cross-border diagnosis and treatment projects or drugs are involved, the platform will make overall arrangements for the entire docking; for disabled and semi-disabled patient groups, the platform will provide rush-free alternative solutions (including remote consultation, door-to-door sampling, direct drug delivery in the cold chain, etc.), to ensure that patients can get the same high-quality diagnosis and treatment resources without having to travel in person.; Study phase: FDA approval. Outcome: Infantile-onset ERT can survive into adulthood, and late-onset ERT can delay progression.
Frequently Asked Questions
What is Pompe disease (Glycogen storage disease type II)?
Pompe disease is caused by mutations in the GAA gene that lead to a deficiency of acid alpha-glucosidase and accumulation of glycogen in lysosomes. The infant type is serious, and the late type is mainly manifested as progressive muscle weakness. Core dilemmas: ① If infants are not treated, they will die of cardiopulmonary failure within one year of age;② Enzyme replacement therapy requires lifelong intravenous infusion;③ERT has limited effect on skeletal muscles;④ Induction of immune tolerance is crucial for patients with high antibody titers.
What are the symptoms of Pompe disease (Glycogen storage disease type II)?
GAA gene mutation,Acid alpha-glucosidase deficiency,Infant type: myocardial hypertrophy, muscle weakness,Late onset: Respiratory muscle weakness
How is Pompe disease (Glycogen storage disease type II) treated?
Alglucosidase alfa: Recombinant acid alpha-glucosidase, infused intravenously every 2 weeks, is the standard enzyme replacement treatment for Pompeii disease.; Avalglucosidase alfa: A new generation of recombinant enzymes has higher M6P content and has a better effect on skeletal muscle.; immune tolerance induction: For patients with high titers of antibodies, immune tolerance induction is needed in combination with immunosuppressants (rituximab + methotrexate).
What is the prognosis for Pompe disease (Glycogen storage disease type II)?
Infantile-onset ERT can survive into adulthood, and late-onset ERT can delay progression