About LOPD

LOPD is a degenerative neuromuscular disorder characterized by muscle dysfunction1

Late-onset pompe disease (LOPD) is caused by pathogenic variants in the acid alpha glucosidase (GAA) gene, resulting in GAA enzyme deficiency. GAA enzyme deficiency leads to impaired lysosmal glycogen breakdown.1

Role of the M6P pathway in routing GAA enzyme into the lysosome2

GAA deficiency results in glycogen accumulation in lysosomes2

Desnick R, Schuchman E. Nat Rev Genet. 2002;3(12):954-966.


Breathing ability due to respiratory muscle weakness

Walking ability due to proximal muscle weakness

The goal of treating LOPD is the improvement or stabilization of breathing and walking1

Historically, many patients on ERT showed an initial benefit, followed by a plateau or decline after 3-5 years5

In a long-term study evaluating the effects of an ERT in adults with LOPD5:

Over 10 years:


of patients experienced a secondary decline in both FVC and 6MWT


declined in either FVC,
6MWT, or both

Individual experience varied

6MWT=6-minute walk test;
FVC=forced vital capacity.

Improvement of respiratory function and walking distance is the goal of LOPD treatments

Continual monitoring, even if your patient appears to be doing well, may help identify at-risk patients sooner.1

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