European Pompe Portal

After many years of research, a therapy of Pompe's disease is available since 2006: enzyme replacement therapy (ERT) can prevent the disease if applied early, i.e. in an early stage of progression. ERT is a long-term therapy for patients with a confirmed diagnosis of Pompe disease. Symptoms that have become manifest can be reduced, but in most cases not completely removed. Other therapeutic approaches may be an option for the future and are under investigation. By now, however, there seems to be no alternative to enzyme replacement therapy.

Myozyme® (recombinant human acid αlpha-glucosidase, rhGAA), a drug developed by Genzyme, was approved by the European Medicines Agency (EMEA) and the U.S. Food and Drug Administration (FDA).

Another version of rhGAA, BMN-103, with an increased number of mannose-6-phosphates, and which is hoped to be better delivered to tissues resulting in improved efficacy with less enzyme, is under preclinical testing at BioMarin.

• Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease
  Michael Beck, Ther Clin Risk Manag. 2009; 5: 767–772
  Download PDF (134 kB, from PubMed Central)

Gene therapy aims to transfer the gene responsible for the control of the enzyme production into the body causing the boty to produce the enzyme on his own. Usually, a modified virus is used as a gene ferry ("vector"). One of the major problems is to balance the harmful potential of the virus with the desired positive effects of the gene.

Animal tests in mice have demonstrated that gene therapy could reverse Pompe symptoms, but it is far too early to do clinical trials in humans. Nonetheless, gene therapy might be an option for the future.

Chaperones are proteines that support or accelerate the folding process of newly synthesized other proteines. For Pompe a positive effect on alpha-glucosidase activity is expected. Chaperones cannot replace a missing enzyme, but possibly can enhance the efficacy of residual enzyme. A chaperone named AT2220 is an approach to Pompe therapy investigated by Amicus Therapeutics Inc., using chaperones. Preclinical animal tests are reported to have shown an increase of alpha-glucosidase activity. Clinical studies are ongoing.