Enzyme replacement therapy (ERT) is an approved treatment strategy for those with Pompe disease. It involves providing patients with alpha-glucosidase, which helps to break down glycogen. In addition to reducing symptoms, ERT may also slow the progression of the disease. According to an article in Rare Disease Advisor, a recent study found that very early ERT helps improve outcomes for those with infantile-onset Pompe disease. 

Researchers screened 1,228,539 infants over a 13-month period. During this time, they discovered and diagnosed 33 of these infants with Pompe disease. Patients began ERT at an average age of 9.75 days. Next, the researchers followed up with the patients for an average 6.18-year period. The patients treated with very early ERT had relatively normal cognitive, heart, and respiratory function, and had reached their motor milestones.

In this regard, the researchers believe that very early ERT – prior to any muscle damage associated with Pompe disease – could improve outcomes and ensure patients had a higher quality-of-life. 

Interested in learning more? Take a look at the study data in the Journal of Medical Genetics. 

What is Pompe Disease? 

Pompe disease is a rare inherited disorder resulting from GAA gene mutations. These mutations prevent the body from being able to process a complex sugar called glycogen. As a result, glycogen accumulates in cells, causing a number of health issues. This disorder impairs muscle, tissue, and organ function. 

Pompe disease is typically broken into three categories:

• Infantile-onset. In this form, symptoms appear within a few months following birth. Without treatment, this form is often fatal within the first two years of life. Symptoms can include muscle weakness, hypotonia (weak/reduced muscle tone), heart and respiratory issues, and an enlarged liver. 
• Non-classic infantile-onset. In this form, symptoms usually appear around one year old. Life expectancy is early childhood. Symptoms can include progressive muscle weakness and impaired motor development. This form is less likely to have heart involvement or failure. 
• Late-onset. Patients with late-onset Pompe disease may experience symptom manifestation from childhood through adulthood. This form is often milder and has less heart involvement. Symptoms can include progressive muscle weakness and respiratory failure.