Pompe Disease

Diagnosis of Pompe disease typically begins with measuring the activity of the acid alpha-glucosidase (GAA) enzyme in blood or skin cells. If enzyme activity is found to be low, genetic testing of the GAA gene is performed to confirm the diagnosis. Early detection through newborn screening is becoming more common, and in countries like the United States, Japan, and parts of Europe, Pompe disease is included in national newborn screening programs. Additional tests, such as electromyography (EMG), muscle MRI, echocardiography, and pulmonary function tests, are also used to assess the extent and severity of the disease.

The current standard treatment for Pompe disease is Enzyme Replacement Therapy (ERT). This involves the intravenous administration of a recombinant form of the GAA enzyme, to supplement the deficient enzyme in the body. ERT has been shown to slow disease progression and improve survival, with early diagnosis and initiation of treatment being especially critical for optimal outcomes.

In addition, gene therapy is an area of active research. Some clinical trials are exploring approaches aimed at enabling long-term production of the GAA enzyme within the body and reducing immune system responses against the therapy. Beyond medication, a multidisciplinary approach is essential, including respiratory therapy, physical rehabilitation, and nutritional support, to manage symptoms and improve the patient's quality of life.