{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T04:47:06Z","timestamp":1786682826195,"version":"build-2736575974"},"reference-count":33,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Open Access Publication Fund of the University M\u00fcnster"},{"name":"pharmaceutical company Amicus"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pharmaceuticals"],"abstract":"<jats:p>Pompe disease is a lysosomal storage disorder with impaired glycogen degradation caused by a deficiency of the enzyme acid \u03b1-glucosidase (GAA). Children with the severe infantile form do not survive beyond the first year of life without treatment. Since 2006, enzyme replacement therapy (ERT) with Alglucosidase alfa (Myozyme) has been available, which is a recombinant human GAA (rhGAA). Myozyme therapy has prolonged the life span of affected patients, but many patients showed a continuing, albeit slower, disease progression. A new generation of rhGAA, Cipaglucosidase alfa (Amicus) has a higher content of mannose-6-phosphate residues, which are necessary for efficient cellular uptake and lysosomal targeting. Cipaglucosidase alfa is co-administered with an enzyme stabilizer, Miglustat, which also optimizes the pharmacological properties. In mouse models, the superiority of Cipaglucosidase alfa\/Miglustat compared to the previous standard therapy could be determined. Here, we report the disease course of a patient with severe infantile M. Pompe, who showed serious progression even with high-dose standard of care ERT. Changing the therapy to Cipaglucosidase alfa\/Miglustat improved respiratory failure, cardiomyopathy, and motor functions significantly. The patient could be weaned from respiratory support and oxygen supplementation. Cardiac function was normalized. Most impressively, the patient, who had lost nearly all motor skills, acquired head control, learned to speak, and could move his wheelchair by himself. Overall, the patient\u2019s clinical situation has improved dramatically with the new ERT.<\/jats:p>","DOI":"10.3390\/ph16091199","type":"journal-article","created":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T07:25:24Z","timestamp":1692775524000},"page":"1199","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa\/Miglustat in Infantile Pompe Disease"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1799-5689","authenticated-orcid":false,"given":"Lina","family":"Fiege","sequence":"first","affiliation":[{"name":"Department of General Pediatrics, Metabolic Diseases, University Children\u2019s Hospital M\u00fcnster, 48149 M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4044-8822","authenticated-orcid":false,"given":"Ibrahim","family":"Duran","sequence":"additional","affiliation":[{"name":"Center of Prevention and Rehabilitation, UniReha, Medical Faculty and University Hospital of Cologne, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Marquardt","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Metabolic Diseases, University Children\u2019s Hospital M\u00fcnster, 48149 M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Pompe\u2019s disease","volume":"372","author":"Reuser","year":"2008","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/humu.24148","article-title":"Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening","volume":"42","author":"Faria","year":"2021","journal-title":"Hum. 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