[Pompe's disease. Part II. Treatment strategies and enzyme replacement].
Pompe's disease is an ultra-orphan disease caused by the deficiency of lysosomal alpha-glucosidase. At present, it is the only inherited muscle disorder, which can be treated by replacement of the enzyme. Three international randomized trials examined the clinical efficacy of enzyme replacement therapy (ERT) in infantile and late-onset diseases. ERT reduced the risk of death, respiratory support, invasive ventilation and improved cardiomyopathy. Respiration, muscle function and quality of life were improved in both infantile and late-onset diseases. These randomized and pilot trials also proved the safety of the treatment. At present it is not clear if antibodies induced by ERT result in decreased efficacy. In this review, we also discuss our experiences obtained by the treatment of three patients, and review the spectrum of supportive and experimental treatment strategies.
Illés
Zsolt
Z
Pécsi Tudományegyetem, Neurológiai Klinika, Pécs. zsolt.illes@aok.pte.hu
Várdi Visy
Katalin
K
D017668:Age of Onset; D002149:Energy Intake; D005081:Exercise Therapy; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000201:enzymology* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D018482:Muscle, Skeletal / Q000187:drug effects / Q000201:enzymology* / Q000503:physiopathology; D016032:Randomized Controlled Trials as Topic; D035583:Rare Diseases / Q000188:drug therapy* / Q000201:enzymology* / Q000503:physiopathology; D000520:alpha-Glucosidases / Q000172:deficiency* / Q000494:pharmacology / Q000627:therapeutic use*
C509951:GAA protein, human; D000520:alpha-Glucosidases