Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Papadopoulos, Constantinos; David, Olivier; Prigent, Hélène; Lacour, Arnaud; Tard, Céline; Furby, Alain; Praline, Julien; Solé, Guilhem; Hogrel, Jean‐Yves; Antonio, Marie De; Semplicini, Claudio; Deibener-Kaminsky, J.; Kaminsky, P.; Taouagh, Nadjib; Perniconi, Barbara; Hamroun, Dalil; Laforêt, Pascal; Bassez, Guillaume; Bedat‐Millet, A.‐L.; Béhin, Anthony; Eymard, B.; Léonard-Louis, Sarah; Stojkovic, Tanya; Canal, A.; Decostre, V.; Bouhour, Françoise; Boyer, F.; Caillaud, Catherine; Castaing, Y.; Chapon, Françoise; Cintas, Pascal; Durieu, I.; Echaniz‐Laguna, Andoni; Féasson, Léonard; Ferrer, Xavier; Froissart, Roseline; Piraud, Monique; Germain, D; Bénistan, Karelle; Guffon‐Fouilhoux, N.; Journel, Hubert; Labauge, Pierre; Levy, Alison; Magot, Armelle; Péreón, Yann; Minot-Myhié, Marie-Christine; Nadaj‐Pakleza, Aleksandra; Nathier, C.; Pellegrini, N.; Petiot, P.; Lofaso, Frédéric; Dutry, A.; Renard, Dimitri; Sacconi, Sabrina; Desnuelle, Claude; Salort‐Campana, Emmanuelle; Pouget, Jean; Tiffreau, V.; Vincent, Didier; Zagnoli, Fabien

doi:10.1016/j.ymgme.2017.06.007

Cited by 22 publications

(17 citation statements)

References 23 publications

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“…A treatment for Pompe disease is available in the form of enzyme replacement therapy (ERT). ERT improves muscle function and prolongs survival [ 2 , 4 , 21 , 24 , 33 , 36 , 37 , 51 , 57 ], but the heterogeneous response among patients has urged the development of alternative treatment options [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

Schaaf

Gestel

Groen

et al. 2018

acta neuropathol commun

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Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Previously, we showed that adult muscle stem cells termed satellite cells are present at normal levels in muscle from patients with Pompe disease, but that these are insufficiently activated to repair the severe muscle pathology. Here we characterized the muscle regenerative response during disease progression in a mouse model of Pompe disease and investigated the intrinsic capacity of Gaa−/− satellite cells to regenerate muscle damage. Gaa−/− mice showed progressive muscle pathology from 15 weeks of age as reflected by increased lysosomal size, decreased fiber diameter and reduced muscle wet weight. Only during the first 15 weeks of life but not thereafter, we detected a gradual increase in centrally nucleated fibers and proliferating satellite cells in Gaa−/− muscle, indicating a mild regenerative response. The levels of Pax7-positive satellite cells were increased in Gaa−/− mice at all ages, most likely as result of enhanced satellite cell activation in young Gaa−/− animals. Surprisingly, both young and old Gaa−/− mice regenerated experimentally-induced muscle injury efficiently as judged by rapid satellite cell activation and complete restoration of muscle histology. In response to serial injury, Gaa−/− mice also regenerated muscle efficiently and maintained the satellite cell pool. These findings suggest that, similar to human patients, Gaa−/− mice have insufficient satellite cell activation and muscle regeneration during disease progression. The initial endogenous satellite cell response in Gaa−/− mice may contribute to the delayed onset of muscle wasting compared to human patients. The rapid and efficient regeneration after experimental muscle injury suggest that Gaa−/− satellite cells are functional stem cells, opening avenues for developing muscle regenerative therapies for Pompe disease.Electronic supplementary materialThe online version of this article (10.1186/s40478-018-0620-3) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

Schaaf

Gestel

Groen

et al. 2018

acta neuropathol commun

View full text Add to dashboard Cite

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“…Numerous studies in children and adults have shown improvement of muscle strength, stabilization of pulmonary function, decreased fatigue, and extended survival. However, there is variation in response and not all patients respond equally well (Broomfield et al, 2016;de Vries et al, 2012;Gungor et al, 2016;Hahn et al, 2018;Kuperus et al, 2017;Papadopoulos et al, 2017;Regnery et al, 2012;Stepien, Whitby, Roberts, & Sharma, 2015;Strothotte et al, 2010;van Capelle et al, 2010;.…”

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confidence: 99%

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

et al. 2019

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Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended the database with clinical information of reported phenotypes. We added additional in silico predictions for effects on splicing and protein function and for cross reactive immunologic material (CRIM) status, minor allele frequencies, and molecular analyses. We analyzed 867 patients and 562 GAA variants. Based on their combination with a GAA null allele (i.e., complete deficiency of GAA enzyme activity), 49% of the 422 disease‐associated variants could be linked to classic infantile, childhood, or adult phenotypes. Predictions and immunoblot analyses identified 131 CRIM negative and 216 CRIM positive variants. While disease‐associated missense variants were found throughout the GAA protein, they were enriched up to seven‐fold in the catalytic site. Fifteen percent of disease‐associated missense variants were predicted to affect splicing. This should be confirmed using splicing assays. Inclusion of clinical severity rating in the Pompe mutation database provides an invaluable tool for diagnosis, prognosis of disease progression, treatment regimens, and the future development of personalized medicine for Pompe disease.

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“…Rather, the present findings strongly support the need to start ERT early once diagnosis and treatment indication have been established in order to stabilize respiratory function and prevent further decline. To this aspect, this study's results are reinforced by prior studies that demonstrated stable or improved respiratory function in patients with advanced LOPD [13,32,33]. Analyses in larger cohorts over longer time frames will be facilitated as enrollment in the Pompe Registry increases and as additional longitudinal data are collected.…”

Section: Discussionmentioning

confidence: 72%

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

et al. 2020

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Objective To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in the Pompe Registry (NCT00231400/Sanofi Genzyme) during enzyme replacement therapy (ERT) with alglucosidase alfa by assessing the longitudinal course of forced vital capacity (FVC), prognostic factors for FVC, and impact of time from diagnosis to ERT initiation. Methods Longitudinal FVC data from LOPD (symptom onset > 12 months or ≤ 12 months without cardiomyopathy) patients were analyzed. Patients had to have baseline FVC (percent predicted upright) assessments at ERT start and ≥ 2 valid post-baseline assessments. Longitudinal analyses used linear mixed-regression models. Results Among 396 eligible patients, median baseline FVC was 66.9% (range 9.3–126.0). FVC remained stable during the 5-year follow-up (slope = − 0.17%, p = 0.21). Baseline FVC was lower among various subgroups, including patients who were male; older at ERT initiation; had a longer duration from symptom onset to ERT initiation; and had more advanced disease at baseline (based on respiratory support use, inability to ambulate, ambulation device use). Age at symptom onset was not associated with baseline degree of respiratory dysfunction. Differences between subgroups observed at baseline remained during follow-up. Shorter time from diagnosis to ERT initiation was associated with higher FVC after 5 years in all patients and the above subgroups using a cut-off of 1.7 years. Conclusion FVC stability over 5 years suggests that respiratory function is preserved during long-term ERT in real-world settings. Early initiation of alglucosidase alfa was associated with preservation of FVC in LOPD patients with better respiratory function at the time of treatment initiation.

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Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Cited by 22 publications

References 23 publications

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

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