Pompe Disease

Background

Pompe disease affects one in 40,000 people. Pompe disease is a hereditary disease. The disease can occur at any age, but is mostly classified into two phenotypes:

• The ‘classic-infantile’ type, which appears shortly after birth. Babies with this type have generalized muscle weakness, including weakness of the respiratory muscles and heart muscle (cardiomyopathy). Without treatment with enzyme replacement therapy, these children die within the first year of life.

• The ‘non-classic’ or ‘late-onset’ type can occur in children, young people and adults. With this type, patients become dependent on a wheelchair and/or ventilation later in life, caused by weakness of the skeletal and respiratory muscles. The heart is almost never involved.

In general, the earlier in life Pompe disease manifests itself, the more serious the consequences.

Treatment

Currently, the only effective treatment for Pompe disease is enzyme replacement therapy with a recombinant human acid alpha-glucosidase, which patients need for life. Enzyme replacement therapy stops or inhibits the symptoms of the disease and improves the physical condition. In children with the classic-infantile form of the disease, we see a clear effect on survival: this is due to improvements in heart function.

In the Netherlands, people with Pompe disease can receive an infusion with the missing enzyme at the Pompe expertise centre of the Erasmus MC in Rotterdam. Depending on the disease type, patients receive enzyme replacement therapy every week (‘classic-infantile’ type) or every two weeks (‘non-classic’ / ‘late-onset’ type). After patients have been treated for a longer period, enzyme replacement therapy can also be administered at home, under the supervision of specialized nurses trained at the Erasmus MC.

Research

Research is being done, both in our expertise centre and internationally, to investigate other methods to slow down the disease and ultimately cure it.

Furthermore, there are various kinds of supportive treatment to keep the disease symptoms under control as best as possible in daily life, such as physiotherapy, occupational therapy, speech therapy, nutritional support and breathing support.