Safety analysis of home-based enzyme replacement therapy with alglucosidase alfa in Pompe disease: A prospective study

Ditters, Imke A.M.; Ploeg, Ans T. van der; Beek, Nadine A.M.E. van der; Hout, Hannerieke .M.P. van den; Huidekoper, Hidde H.

doi:10.1016/j.ymgme.2022.107081

Cited by 2 publications

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“…The development of next-generation ERTs and gene therapies for Pompe disease is crucial in order to address the limitations of current treatments and provide more effective options for patients [1,2,[21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37]. These advancements aim to overcome challenges such as poor distribution to muscles, reduced muscle uptake, interference from antibodies, and limited penetration of the blood-brain barrier.…”

Section: Am J Biomed Sci and Resmentioning

confidence: 99%

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2023

AJBSR

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Pompe disease, acid maltase disease, is a rare, autosomal recessive inherited metabolic disorder from the group of lysosomal storage diseases, which is based on a genetically caused deficiency of an enzyme and is treatable by substitution of this enzyme. Pompe disease is also known as myopathy due to acid maltase deficiency, α-1,4-glucosidase deficiency or acid α-glucosidase deficiency, glycogen storage disease type II or glycogenosis type II. It is inherited in an autosomal recessive manner. When each parent carries one copy of the mutated gene the child will be affected by Pompe disease. Pompe disease is one of the metabolic myopathies and is a glycogen storage disease. The incidence of Pompe disease is estimated to be approximately 1:40,000-1:200000. The disease is due to a genetic deficiency or complete absence of the lysosomal Enzyme Acid α-glucosidase. GAA degrades glycogen to glucose, particularly in the lysosomes of muscle tissue. Due to the lack of enzyme, glycogen derived from autophagy accumulates in the lysosomes. As with other lysosomal storage diseases, the cells are affected in their function first, and increasingly as the disease progresses, the entire muscle tissue is affected. Once damage has occurred, it is usually irreversible. Three different types are known, an infantile form (IOPD), a non-classic IOPD without cardiac involvement and a late onset LOPD. IOPD patients show a GAA enzymatic activity of 1-3 %, in LOPD patients an enzyme activity of 2-40 % of GAA is present. Diagnosis will be confirmed by GAA enzyme analysis prenatally in amniotic fluid and postnatally by alpha 1-4 glucosidase activity in the blood. The later the disease appears the better it can be treated. This manuscript focuses on the present therapeutical options to treat Pompe disease in children and shed light on present molecular research curing the disease.

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