New treatment for debilitating Pompe disease

January 19, 2011 2:26:45 PM PST
Pompe Disease, according to the National Institutes of Health, is an inherited disorder most commonly caused by a buildup of sugar the cell's in the body.

This buildup of sugar causes certain cells in the body to function improperly. There are three main types of Pompe Disease:

1. Classic infantile-onset: This type begins shortly after birth, within a few months. Children and infants with this type of Pompe Disease experience muscle weakness, poor muscle tone, an enlarged liver, and heart defects. Another common effect from this type is that children experience a difficult time in growing and weight gain. Also, many infants experiencing classic infantile-onset with having breathing problems and difficulties.

2. Non-classic infantile onset: This type appears no later than age 1. Common symptoms of this type include: delayed motor skills and progressive muscle weakness. Often times, the heart is unusually large and the child experiences severe breathing problems. Children diagnosed with non-classic infantile onset do not live past early childhood.

3. Late onset: Late onset Pompe Disease does not become apparent until late childhood, adolescence or even adulthood. The good news with late onset Pompe Disease is that it does not attack the heart as severely as classic infantile and non-classic infantile. They do experience breathing problems, however, and respiratory failure is often the result.

TREATMENT: An enzyme replacement therapy has been created to help those suffering from Pompe Disease. This enzyme therapy was developed to help decrease heart size, and reduce sugar accumulation. Myozyme is a drug recently approved by the Food and Drug Administration (FDA) for treatment of Pompe Disease in infants and young children. For those adults experiencing late onset Pompe Disease, the FDA has approved Lumizyme. (Source: National Institute of Neurological Disorders and Stroke)

PROGNOSIS: Typically, the later the onset of the disease, the slower the progression and the better off the patient is. Normally, the prognosis of the disease is determined by the extent of respiratory muscle involvement. For those babies diagnosed with classic infantile onset, the babies will die before the age of one from cardiac failure. Those with late onset, usually have a better chance of survival.


Lee Ann Lawson
University of Florida
(352) 273-7762