What is Pompe Disease?
How to diagnose?
Enzymatic testing in dried blood spots demonstrating a low level of alpha-glucosidase activity and GAA gene sequencing.
The diagnosis of LOPD can be challenging and may take many years, often involving muscle biopsies.
What is the treatment?
Enzyme replacement therapy is the standard treatment. In infants with IOPD, ERT produces heart size, improves heart function, and prolongs survival. Infants will need to undergo immunosuppressive protocols before starting ERT. Supportive therapies such as respiratory support and nutritional management are essential to care for infants with IOPD.
For individuals with LOPD, there are several FDA-approved ERT products available, including an ERT administered together with an oral medication. Other treatment options are in the pipeline and clinical development, including gene therapy and small molecule therapies. Appropriate care and adjunct therapies will lead to the alleviation of symptoms and improved quality of life.
Main Types
Classic Infantile Onset
Symptoms include muscle weakness, poor muscle tone, enlarged liver, enlarged tongue, trouble breathing, frequent lung infections, and hearing problems. Rapidly progressive cardiomyopathy leads to heart failure and respiratory distress.
Non-classic Infantile-onset
Late-onset
Prevalence in the US is 1 in 40,000
Poor feeding (IOPD)
Low muscle tone (IOPD) | (LOPD)
Frequent respiratory infections (IOPD)
Enlarged heart (IOPD)
Breathing issues (IOPD) | (LOPD)
Muscle weakness (IOPD) | (LOPD)
Abnormal gait (LOPD)
Enzyme Replacement Therapy (ERT)
ERT with oral pharmacological chaperone
*Other treatments under development