Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

Ditters, Imke A.M.; Huidekoper, Hidde H.; Kruijshaar, Michelle E.; Rizopoulos, Dimitris; Hahn, Andreas; Mongini, Tiziana; Labarthe, François; Tardieu, M.; Chabrol, B.; Brassier, Anaïs; Parini, Rossella; Parenti, Giancarlo; Beek, Nadine A M E van der; Ploeg, Ans T. van der; Hout, J. M. P. van den; Mengel, Eugen; Hennermann, Julia B.; Smitka, Martin; Muschol, Nicole; Marquardt, Thorsten; Marquardt, Martina; Thiels, Charlotte; Spada, Marco; Pagliardini, Veronica; Menni, Francesca; Casa, Roberto Della; Deodato, Federica; Gasperini, Serena; Burlina, Alberto; Donati, Alice; Pichard, Samia; Feillet, François; Huet, Frédéric; Mention, Karine; Eyer, Didier; Küster, Alice; Taris, Caroline Espil; Lefranc, Jérémie; Barth, Magalie; Bruel, H.; Chevret, L.; Pitelet, Gaële; Pitelet, Catherine; Rivier, François; Dobbelaere, Dries

doi:10.1016/s2352-4642(21)00308-4

Cited by 39 publications

(31 citation statements)

References 27 publications

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“…CRIM-negative patients received a dosage of 40 mg/kg weekly, simultaneously with an ITI protocol (methotrexate, rituximab, IV immunoglobulins [ 46 ]), the CRIM-positive patient was treated with an initial dosage of 40 mg/kg every other week without ITI, based on the best evidence at that time. The dosage was then increased to 40 mg/kg weekly when she was 3-year-old, based on recent evidence [ 11 , 47 ].…”

Section: Resultsmentioning

confidence: 99%

“…Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) has significantly changed the natural history of the disorder [ [9] , [10] , [11] ]. Some patients, especially those with IOPD lacking GAA cross-reactive immunological material (CRIM-negative), develop anti-rhGAA antibodies with subsequent adverse events or loss of efficacy, and may require preventive or therapeutic immunotolerance induction (ITI) [ 12 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

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Newborn screening for Pompe disease in Italy: Long-term results and future challenges

Gragnaniello¹,

Pijnappel²,

Groen³

et al. 2022

Molecular Genetics and Metabolism Reports

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

Gragnaniello¹,

Pijnappel²,

Groen³

et al. 2022

Molecular Genetics and Metabolism Reports

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“…Theoretically, if a similar amount is bound upon administration of 40 mg/kg, about 30 mg/kg would still be available for uptake in target tissues [ 27 , 48 ]. Recently, an observational study of the European Consortium project group on 124 c-IOPD concluded that ERT dosage of 40 mg/kg/week significantly improves survival compared to standard dosage (20 mg/kg every other week) [ 54 ]. Further studies on patients with positive antibodies are needed.…”

Section: Resultsmentioning

confidence: 99%

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

et al. 2022

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Background Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic cardiomyopathy within the first days to weeks of life and, without treatment, patients die of cardiorespiratory failure in their first 1–2 years of life. Enzymatic replacement therapy (ERT) with alglucosidase alfa is the only available treatment, but adverse immune reactions can reduce ERT’s effectiveness and safety. It is therefore very important to identify strategies to prevent and manage these complications. Several articles have been written on this disease over the last 10 years, but no univocal indications have been established. Methods Our study presents a review of the current literature on management of immune responses to ERT in c-IOPD as considered by an Italian study group of pediatric metabolists and immunologists in light of our shared patient experience. Results We summarize the protocols for the management of adverse reactions to ERT, analyzing their advantages and disadvantages, and provide expert recommendations for their optimal management, to the best of current knowledge. However, further studies are needed to improve actual management protocols, which still have several limitations.

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“…Patients with a high-dosage regimen (40 mg/kg per week) lived significantly longer compared with those treated with the standard recommended dosage. 3 The ERT effect on walking is, however, rather limited because only half of the patients learned to walk, and this did not improve significantly with a higher dosage. 3 LOPD may present with hyperCKemia, often associated with exercise intolerance, fatigue or myalgia progressing to limb-girdle, and axial weakness with respiratory failure, without cardiac involvement.…”

mentioning

confidence: 97%

“…3 The ERT effect on walking is, however, rather limited because only half of the patients learned to walk, and this did not improve significantly with a higher dosage. 3 LOPD may present with hyperCKemia, often associated with exercise intolerance, fatigue or myalgia progressing to limb-girdle, and axial weakness with respiratory failure, without cardiac involvement. 4 A prospective 10-year study on 30 adult patients with LOPD showed that most benefited from ERT during the first 3-5 years of treatment.…”

mentioning

confidence: 97%

Greater Efficacy of Avalglucosidase vs Alglucosidase Alfa in Adult Pompe Disease?

Visser

Argov

2022

Neurology

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Pompe disease, glycogen storage disease type II, is a rare autosomal recessive disease caused by pathogenic variants in the GAA gene leading to deficient synthesis of acid alfa-glucosidase (GAA). Deficiency of GAA causes lysosomal dysfunction and glycogen accumulation particularly in cardiac and skeletal muscles.1 The phenotype is largely dependent on the specific variant and the residual level of GAA activity. The severe infantile-onset multisystemic form (IOPD), associated with <1% residual GAA activity, is different from a milder phenotype known as late-onset Pompe disease (LOPD). LOPD develops later in life (childhood to adulthood) and is characterized by progressive weakness affecting limb-girdle and respiratory muscles and associated with GAA activity up to 20% of normal levels.

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Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

Cited by 39 publications

References 27 publications

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

Greater Efficacy of Avalglucosidase vs Alglucosidase Alfa in Adult Pompe Disease?

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