{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:33:06Z","timestamp":1786980786551,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,10,26]],"date-time":"2015-10-26T00:00:00Z","timestamp":1445817600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2015,10,26]],"date-time":"2015-10-26T00:00:00Z","timestamp":1445817600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Enzyme replacement therapy (ERT) for infantile\u2010onset Pompe disease has been commercially available for almost 10 years. We report the experience of its use in a cohort treated at three specialist lysosomal treatment centres in the UK.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective case\u2010note review was performed, with additional data being gathered from two national audits on all such patients treated with ERT. The impact on the outcome of various characteristics, measured just prior to the initiation of ERT (baseline), was evaluated using logistic regression.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Thirty\u2010three patients were identified; 13\/29 (45 %) were cross\u2010reactive immunological material (CRIM) negative, and nine were immunomodulated. At baseline assessment, 79 % were in heart failure, 66 % had failure to thrive and 70 % had radiological signs of focal pulmonary collapse. The overall survival rate was 60 %, ventilation\u2010free survival was 40 % and 30 % of patients were ambulatory. Median follow\u2010up of survivors was 4 years, 1.5\u2009months (range 6 months to 13.5 years). As with previous studies, the CRIM status impacted on all outcome measures. However, in this cohort, baseline failure to thrive was related to death and lack of ambulation, and left ventricular dilatation was a risk factor for non\u2010ventilator\u2010free survival.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The outcome of treated patients remains heterogeneous despite attempts at immunomodulation. Failure to thrive at baseline and left ventricular dilation appear to be associated with poorer outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10545-015-9898-5","type":"journal-article","created":{"date-parts":[[2015,10,26]],"date-time":"2015-10-26T03:35:11Z","timestamp":1445830511000},"page":"261-271","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":56,"title":["Response of 33 UK patients with infantile\u2010onset Pompe disease to enzyme replacement therapy"],"prefix":"10.1002","volume":"39","author":[{"given":"A.","family":"Broomfield","sequence":"first","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St Mary's Hospital Central Manchester University Hospital Foundation Trust Oxford Road Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Fletcher","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St Mary's Hospital Central Manchester University Hospital Foundation Trust Oxford Road Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Davison","sequence":"additional","affiliation":[{"name":"Metabolic Medicine Unit Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Finnegan","sequence":"additional","affiliation":[{"name":"Metabolic Medicine Unit Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Fenton","sequence":"additional","affiliation":[{"name":"Cardiology Department Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Chikermane","sequence":"additional","affiliation":[{"name":"Department of Paediatric Cardiology Birmingham Children's Hospital Steelhouse Lane Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Beesley","sequence":"additional","affiliation":[{"name":"Regional Genetics Laboratories Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Harvey","sequence":"additional","affiliation":[{"name":"Enzyme Unit, Chemical Pathology Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Cullen","sequence":"additional","affiliation":[{"name":"Enzyme Unit, Chemical Pathology Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Stewart","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disorders Birmingham Children's Hospital Steelhouse Lane Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Santra","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disorders Birmingham Children's Hospital Steelhouse Lane Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Vijay","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disorders Birmingham Children's Hospital Steelhouse Lane Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Champion","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disease, Guy's and St Thomas\u2019 NHS Foundation Trusts Evelina London Children's Hospital Westminster Bridge Road London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Abulhoul","sequence":"additional","affiliation":[{"name":"Metabolic Medicine Unit Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Grunewald","sequence":"additional","affiliation":[{"name":"Metabolic Medicine Unit Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Chakrapani","sequence":"additional","affiliation":[{"name":"Metabolic Medicine Unit Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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