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. 2023 Dec 12;12(12):CD012993.
doi: 10.1002/14651858.CD012993.pub2.

Enzyme replacement therapy for late-onset Pompe disease

Sanjush Dalmia  1 , Reena Sharma  2 , Uma Ramaswami  3 , Derralynn Hughes  3 , Nikki Jahnke  4 , Duncan Cole  5 , Sherie Smith  6 , Tracey Remmington  4
Affiliations

Enzyme replacement therapy for late-onset Pompe disease

Sanjush Dalmia et al. Cochrane Database Syst Rev. .

Abstract

Background: Pompe disease is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). People with infantile-onset disease have either a complete or a near-complete enzyme deficiency; people with late-onset Pompe disease (LOPD) retain some residual enzyme activity. GAA deficiency is treated with an intravenous infusion of recombinant human acid alglucosidase alfa, an enzyme replacement therapy (ERT). Alglucosidase alfa and avalglucosidase alfa are approved treatments, but cipaglucosidase alfa with miglustat is not yet approved.

Objectives: To assess the effects of enzyme replacement therapies in people with late-onset Pompe disease.

Search methods: We searched the Cochrane Inborn Errors of Metabolism Trials Register, compiled from electronic database searches and handsearching of journals and conference abstract books. We also searched MEDLINE OvidSP, clinical trial registries, and the reference lists of relevant articles and reviews. Date of last search: 21 April 2022.

Selection criteria: We included randomised controlled trials (RCTs) of ERT in people with LOPD of any age.

Data collection and analysis: Two review authors independently assessed trial eligibility, extracted data, assessed the risk of bias and the certainty of the evidence (using GRADE). We resolved disagreements through discussion and by consulting a third author.

Main results: We included six trials (358 randomised participants) lasting from 12 to 78 weeks. A single trial reported on each comparison listed below. None of the included trials assessed two of our secondary outcomes: need for respiratory support and use of a walking aid or wheelchair. Certainty of evidence was most commonly downgraded for selective reporting bias. Alglucosidase alfa versus placebo (90 participants) After 78 weeks, alglucosidase alfa probably improves the six-minute walk test (6MWT) distance compared to placebo (mean difference (MD) 30.95 metres, 95% confidence interval (CI) 7.98 to 53.92; moderate-certainty evidence) and probably improves respiratory function, measured as the change in per cent (%) predicted forced vital capacity (FVC) (MD 3.55, 95% CI 1.46 to 5.64; moderate-certainty evidence). There may be little or no difference between the groups in occurrence of infusion reactions (risk ratio (RR) 1.21, 95% CI 0.57 to 2.61; low-certainty evidence), quality of life physical component score (MD -1.36 points, 95% CI -5.59 to 2.87; low-certainty evidence), or adverse events (RR 0.94, 95% CI 0.64 to 1.39; low-certainty evidence). Alglucosidase alfa plus clenbuterol versus alglucosidase alfa plus placebo (13 participants) The evidence is very uncertain about the effect of alglucosidase alfa plus clenbuterol compared to alglucosidase alfa plus placebo on: change in 6MWT distance after 52 weeks (MD 34.55 metres, 95% CI-10.11 to 79.21; very low-certainty evidence) and change in % predicted FVC (MD -13.51%, 95% CI -32.44 to 5.41; very low-certainty evidence). This study did not measure infusion reactions, quality of life, and adverse events. Alglucosidase alfa plus albuterol versus alglucosidase alfa plus placebo (13 participants) The evidence is very uncertain about the effect of alglucosidase alfa plus albuterol compared to alglucosidase alfa plus placebo on: change in 6MWT distance after 52 weeks (MD 30.00 metres, 95% CI 0.55 to 59.45; very low-certainty evidence), change in % predicted FVC (MD -4.30%, 95% CI -14.87 to 6.27; very low-certainty evidence), and risk of adverse events (RR 0.67, 95% CI 0.38 to 1.18; very low-certainty evidence). This study did not measure infusion reactions and quality of life. VAL-1221 versus alglucosidase alfa (12 participants) Insufficient information was available about this trial to generate effect estimates measured at one year or later. Compared to alglucosidase alfa, VAL-1221 may increase or reduce infusion-associated reactions at three months, but the evidence is very uncertain (RR 2.80, 95% CI 0.18 to 42.80). This study did not measure quality of life and adverse events. Cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo (125 participants) Compared to alglucosidase alfa plus placebo, cipaglucosidase alfa plus miglustat may make little or no difference to: 6MWT distance at 52 weeks (MD 13.60 metres, 95% CI -2.26 to 29.46); infusion reactions (RR 0.94, 95% CI 0.49 to 1.80); quality of life scores for physical function (MD 1.70, 95% CI -2.13 to 5.53) and fatigue (MD -0.30, 95% CI -2.76 to 2.16); and adverse effects potentially related to treatment (RR 0.83, 95% CI 0.49 to 1.40) (all low-certainty evidence). Cipaglucosidase alfa plus miglustat probably improves % predicted FVC compared to alglucosidase alfa plus placebo (MD 3.10%, 95% CI 1.04 to 5.16; moderate-certainty evidence); however, it may make little or no change in % predicted sniff nasal inspiratory pressure (MD -0.06%, 95% CI -8.91 to 7.71; low-certainty evidence). Avalglucosidase alfa versus alglucosidase alfa (100 participants) After 49 weeks, avalglucosidase alfa probably improves 6MWT compared to alglucosidase alfa (MD 30.02 metres, 95% CI 1.84 to 58.20; moderate-certainty evidence). Avalglucosidase alfa probably makes little or no difference to % predicted FVC compared to alglucosidase alfa (MD 2.43%, 95% CI -0.08 to 4.94; moderate-certainty evidence). Avalglucosidase alfa may make little or no difference to infusion reactions (RR 0.78, 95% CI 0.42 to 1.45), quality of life (MD 0.77, 95% CI -2.09 to 3.63), or treatment-related adverse events (RR 0.92, 95% CI 0.61 to 1.40), all low-certainty evidence.

Authors' conclusions: One trial compared the effect of ERT to placebo in LOPD, showing that alglucosidase alfa probably improves 6MWT and respiratory function (both moderate-certainty evidence). Avalglucosidase alfa probably improves 6MWT compared with alglucosidase alfa (moderate-certainty evidence). Cipaglucosidase plus miglustat probably improves FVC compared to alglucosidase alfa plus placebo (moderate-certainty evidence). Other trials studied the adjunct effect of clenbuterol and albuterol along with alglucosidase alfa, with little to no evidence of benefit. No significant rise in adverse events was noted with all ERTs. The impact of ERT on some outcomes remains unclear, and longer RCTs are needed to generate relevant information due to the progressive nature of LOPD. Alternative resources, such as post-marketing registries, could capture some of this information.

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Conflict of interest statement

Sanjush Dalmia: none known.

Reena Sharma: declares she has acted as an independent consultant on an advisory board meeting for Amicus Therapeutics, Inc. and for Sanofi Pasteur Biologics LLC, and has also received support to attend the WORLD Symposium from Sanofi US Services Inc. and to attend British Inherited Metalabolic Disorders Group annual symposium 2022, with support from Amicus.

Uma Ramaswami: declares she received travel and speaker fees from Amicus and Takeda, honoraria for advisory board membership from Genzyme and Takeda; and research grants from Amicus, Intrabio, and Takeda; none related to Pompe disease.

Derralynn Hughes: declares she was the principal investigator on two trials included in this review (COMET 2021; PROPEL 2021). She is also involved in a joint working project for the development of an educational platform for Fabry disease with Amicus Therapeutics, Inc.; has also received travel support from Amicus Therapeutics, Inc. to attend meetings; is involved in a joint working group to audit clinical pathways for Fabry patients; and has had speaking engagements, sat on advisory boards, and has had writing support for publications related to clinical trials. She has received travel support for meetings, writing support and gave talks at educational meetings from Sanofi and Genzyme US Companies.

Duncan Cole: has received International Congress of Inborn Errors of Metabolism conference sponsorship from Amicus Therapeutics, Inc. and is co‐supervisor for a PhD partly funded by Amicus Therapeutics, Inc.; has received funding from Sanofi‐Genzyme for an investigator‐sponsored study in Fabry disease and honoraria for talks, and fees for advisory board meetings and WORLD symposium online sponsorship. Received consultant fees from Takeda California, Inc. for advisory boards and steering committees.

Tracey Remmington: none known.

Nicola Jahnke: none known.

Sherie Smith: none known.

Figures

1
1
Study flow diagram
2
2
Risk of bias summary: review authors' judgements about each risk of bias item for each included study.
1.1
1.1. Analysis
Comparison 1: Alglucosidase alfa versus placebo, Outcome 1: Change in 6MWT from baseline
1.2
1.2. Analysis
Comparison 1: Alglucosidase alfa versus placebo, Outcome 2: Change in FVC from baseline
1.3
1.3. Analysis
Comparison 1: Alglucosidase alfa versus placebo, Outcome 3: Infusion reactions
1.4
1.4. Analysis
Comparison 1: Alglucosidase alfa versus placebo, Outcome 4: Quality of life (measured by PCS in SF‐36)
1.5
1.5. Analysis
Comparison 1: Alglucosidase alfa versus placebo, Outcome 5: Treatment‐related adverse events
2.1
2.1. Analysis
Comparison 2: Alglucosidase alfa plus clenbuterol versus alglucosidase alfa plus placebo, Outcome 1: Change in 6MWT from baseline
2.2
2.2. Analysis
Comparison 2: Alglucosidase alfa plus clenbuterol versus alglucosidase alfa plus placebo, Outcome 2: Change in FVC from baseline
3.1
3.1. Analysis
Comparison 3: Alglucosidase alfa plus albuterol versus alglucosidase alfa plus placebo, Outcome 1: Change in 6MWT from baseline
3.2
3.2. Analysis
Comparison 3: Alglucosidase alfa plus albuterol versus alglucosidase alfa plus placebo, Outcome 2: Change in FVC from baseline
3.3
3.3. Analysis
Comparison 3: Alglucosidase alfa plus albuterol versus alglucosidase alfa plus placebo, Outcome 3: Adverse events
4.1
4.1. Analysis
Comparison 4: VAL‐1221 versus alglucosidase alfa, Outcome 1: Infusion‐associated reactions
5.1
5.1. Analysis
Comparison 5: Cipaglucosidase plus miglustat versus alglucosidase alfa plus placebo, Outcome 1: Change in 6MWD from baseline
5.2
5.2. Analysis
Comparison 5: Cipaglucosidase plus miglustat versus alglucosidase alfa plus placebo, Outcome 2: Change in sitting FVC (% predicted) from baseline to 52 weeks
5.3
5.3. Analysis
Comparison 5: Cipaglucosidase plus miglustat versus alglucosidase alfa plus placebo, Outcome 3: Change in % predicted SNIP from baseline to 52 weeks
5.4
5.4. Analysis
Comparison 5: Cipaglucosidase plus miglustat versus alglucosidase alfa plus placebo, Outcome 4: Infusion reactions ‐ total
5.5
5.5. Analysis
Comparison 5: Cipaglucosidase plus miglustat versus alglucosidase alfa plus placebo, Outcome 5: Quality of life ‐ PROMIS ‐ physical function score
5.6
5.6. Analysis
Comparison 5: Cipaglucosidase plus miglustat versus alglucosidase alfa plus placebo, Outcome 6: Quality of life ‐ PROMIS ‐ fatigue score
5.7
5.7. Analysis
Comparison 5: Cipaglucosidase plus miglustat versus alglucosidase alfa plus placebo, Outcome 7: Treatment‐emergent adverse events ‐ total
5.8
5.8. Analysis
Comparison 5: Cipaglucosidase plus miglustat versus alglucosidase alfa plus placebo, Outcome 8: Treatment‐emergent adverse events (breakdown 1)
5.9
5.9. Analysis
Comparison 5: Cipaglucosidase plus miglustat versus alglucosidase alfa plus placebo, Outcome 9: Treatment‐emergent adverse events (breakdown 2)
6.1
6.1. Analysis
Comparison 6: Avalglucosidase alfa versus alglucosidase alfa, Outcome 1: Change in 6MWT
6.2
6.2. Analysis
Comparison 6: Avalglucosidase alfa versus alglucosidase alfa, Outcome 2: Change in % predicted 6MWT
6.3
6.3. Analysis
Comparison 6: Avalglucosidase alfa versus alglucosidase alfa, Outcome 3: Change in FVC from baseline
6.4
6.4. Analysis
Comparison 6: Avalglucosidase alfa versus alglucosidase alfa, Outcome 4: Infusion reactions
6.5
6.5. Analysis
Comparison 6: Avalglucosidase alfa versus alglucosidase alfa, Outcome 5: Change in EQ‐5D‐5L (from baseline to 49 weeks)
6.6
6.6. Analysis
Comparison 6: Avalglucosidase alfa versus alglucosidase alfa, Outcome 6: Change in health‐related quality of life (from baseline to 49 weeks)
6.7
6.7. Analysis
Comparison 6: Avalglucosidase alfa versus alglucosidase alfa, Outcome 7: Treatment‐emergent adverse events
6.8
6.8. Analysis
Comparison 6: Avalglucosidase alfa versus alglucosidase alfa, Outcome 8: Treatment‐emergent adverse events ‐ breakdown
See this image and copyright information in PMC

Update of

References

References to studies included in this review

COMET 2021 {published data only}
    1. Berger K, DasMahapatra P, Baranowski E, Haack KA, Sparks S, Thibault N, et al. POMPE DISEASE: EP.200 patient relevant change in forced vital capacity % predicted in late onset Pompe disease (LOPD) in the COMET trial. Neuromuscular Disorders 2021;31 Suppl 1:S110.
    1. Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, et al. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Lancet Neurology 2021;20(12):1012-26. - PubMed
    1. Kishnani P, Diaz-Manera J, Kushlaf H, Ladha S, Mozaffar T, Straub V, et al. The avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients: efficacy and safety results after 97 weeks. Molecular Genetics and Metabolism 2022;135(2):S66-7.
    1. Kushlaf H, Attarian S, Borges JL, Bouhour F, Chien Y-H, Choi Y-C, et al. Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset pompe disease patients. Neurology 2021;96(15 Suppl 1):[no pagination].
    1. NCT02782741. Study to compare the efficacy and safety of enzyme replacement therapies avalglucosidase alfa and alglucosidase alfa administered every other week in patients with late-onset Pompe disease who have not been previously treated for pompe disease (COMET) [A phase 3 randomized, multicenter, multinational, double-blinded study comparing the efficacy and safety of repeated biweekly infusions of avalglucosidase alfa (neogaa, gz402666) and alglucosidase alfa in treatment naïve patients with late-onset Pompe disease]. clinicaltrials.gov/show/NCT02782741 (first posted 25 May 2016) (last accessed 26 July 2023).
Kishnani 2019 {published data only}
    1. EudraCT Number: 2016-004578-16. A three-month, open-label, randomized, dose-escalation study of the safety, tolerability, pharmacokinetics, pharmacodynamics and preliminary efficacy of VAL-1221 versus Myozyme®/Lumizyme® in patients with late-onset Pompe disease. clinicaltrialsregister.eu/ctr-search/search?query=2016-004578-16 (start date 19 June 2017) (last accessed 22 April 2022).
    1. Kishnani P, Lachmann R, Mozaffar T, Walters C, Case L, Appleby M, et al. Safety and efficacy of VAL-1221, a novel fusion protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease. Molecular Genetics and Metabolism 2019;126(2):S85-6. [DOI: ]
    1. NCT02898753. VAL-1221 delivered intravenously in ambulatory and ventilator-free participants with late-onset Pompe disease. clinicaltrials.gov/ct2/show/NCT02782741 (first posted 13 September 2016) (last accessed 22 April 2022).
Koeberl 2018 {published data only}
    1. Koeberl DD, Case LE, Smith EC, Walters C, Han S-O, Li Y, et al. Correction of biochemical abnormalities and gene expression associated with improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease patients stably treated with ERT. Molecular Genetics and Metabolism 2018;123(2):S79-80.
    1. Koeberl DD, Case LE, Smith EC, Walters C, Han SO, Li Y, et al. Correction of biochemical abnormalities and improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease. Molecular Therapy 2018;26(9):2304-14. [DOI: 10.1016/j.ymthe.2018.06.023] [PMID: ] - DOI - PMC - PubMed
    1. NCT01942590. Safety and efficacy of clenbuterol in individuals with late-onset Pompe disease and receiving enzyme replacement therapy [A clinical investigation of the safety and efficacy of clenbuterol on motor function in individuals with late-onset pompe disease and receiving enzyme replacement therapy]. clinicaltrials.gov/show/NCT01942590 (first posted 16 September 2013) (last accessed 22 April 2022).
Koeberl 2019 {published data only}
    1. Koeberl DD, Case LE, Desai A, Smith EC, Walters C, Han SO, et al. Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease. Molecular Genetics & Metabolism 2019;129(2):67-72. [PMID: ] - PubMed
    1. NCT01885936. Safety and efficacy of albuterol in individuals with late-onset Pompe disease [A phase 1/2 double-blind study of the safety and efficacy of albuterol on motor function in individuals with late-onset pompe disease receiving enzyme replacement therapy]. clinicaltrials.gov/show/NCT01885936 (first posted 25 June 2013) (last accessed 22 April 2022).
PROPEL 2021 {published data only}
    1. Byrne B, Bratkovic D, Diaz-Manera J, Laforet P, Mozaffar T, Ploeg A, et al. Cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): PROPEL study subgroup analyses. Molecular Genetics and Metabolism 2022;135(2):S27-8.
    1. Chien Y-H, Benjamin E, Schoser B, Kishnani P, Mozaffar T, Diaz-Manera J, et al. Immunogenicity of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): a phase III, randomized study (PROPEL). Molecular Genetics and Metabolism 2022;135(2):S30.
    1. EudraCT Number: 2018-000755-40. A Phase 3 double-blind randomized study to assess the efficacy and safety of intravenous ATB200 co-administered with oral AT2221 in adult subjects with late onset Pompe disease compared with alglucosidase alfa/placebo. clinicaltrialsregister.eu/ctr-search/search?query=eudract_number:2018-00... (start date: 8 April 2019) (last accessed 26 July 2023).
    1. JapicCTI-194887. A phase 3 double-blind randomized study to assess the efficacy and safety of intravenous ATB200 co-administered with oral AT2221 in adult subjects with late- onset pompe disease compared with alglucosidase alfa/placebo. clinicaltrials.jp/user/showCteDetailE.jsp?japicId=JapicCTI-194887 (first posted 29 July 2019) (last accessed 26 July 2023).
    1. NCT03729362. PROPEL study - a study comparing ATB200/AT2221 with alglucosidase/placebo in adult subjects with LOPD [A phase 3 double-blind randomized study to assess the efficacy and safety of intravenous atb200 co-administered with oral at2221 in adult subjects with late onset Pompe disease compared with alglucosidase alfa/placebo]. clinicaltrials.gov/show/NCT03729362 (first posted 02 November 2018) (last accessed 26 July 2023).
Van der Ploeg 2010 {published data only}
    1. Ecker‐Schlipf B. Pompe disease: successful treatment with alglucosidase alfa in late onset of the disease [Morbus pompe: behandlungserfolge mit alglucosidase alfa bei der späten krankheitsform]. www.arzneimitteltherapie.de/heftarchiv/2010/10/behandlungserfolge-mit-al... 2010 (last accessed 26 July 2023);28(10):[no pagination].
    1. EudraCT Number: 2005-002759-42. A randomized, double-blind, multicenter, multinational, placebo-controlled study of the safety, efficacy, and pharmacokinetics of myozyme, recombinant human acid alpha-glucosidase (rhGAA), treatment in patients with late-onset Pompe disease. www.clinicaltrialsregister.eu/ctr-search/trial/2005-002759-42/DE (first registered 24 July 2009) (last accessed 22 April 2022).
    1. Forsha D, Li JS, Smith PB, Van der Ploeg AT, Kishnani P, Pasquali SK. Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genetics in Medicine 2011;13(7):625-31. [DOI: 10.1097/GIM.0b013e3182142966] [PMID: ] - DOI - PMC - PubMed
    1. Laforet P, Clemens PR, Corzo D, Escolar D, Florence J, Van der Ploeg A, et al. Safety and efficacy results from a randomized, double-blind, placebo-controlled study of alglucosidase alfa for the treatment of pompe disease in juveniles and adults. Neuromuscular Disorders : NMD 2008;18(9-10):832-3.
    1. NCT00158600. A placebo-controlled study of safety and effectiveness of myozyme (alglucosidase alfa) in patients with late-onset Pompe disease [Randomized, double-blind, placebo-controlled study of the safety, efficacy and pharmacokinetics of myozyme in patients with late-onset Pompe disease]. clinicaltrials.gov/show/NCT00158600 (first posted 12 September 2005) (last accessed 26 July 2023).

References to studies excluded from this review

Case 2015 {published data only}
    1. Case LE, Bjartmar C, Morgan C, Casey R, Charrow J, Clancy JP, et al. Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease. Neuromuscular Disorders 2015;25(4):321-32. [DOI: 10.1016/j.nmd.2014.12.004] [PMID: ] - DOI - PubMed
    1. NCT00483379. High dose or high dose frequency study of alglucosidase alfa [An exploratory, open-label study of the safety and efficacy of high dose or high dosing frequency alglucosidase alfa treatment in patients with Pompe disease who do not have an optimal response to the standard dose regimen]. clinicaltrials.gov/show/NCT00483379 (first posted 07 June 2007) (last accessed 22 April 2022).
Harlaar 2019 {published data only}
    1. Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, et al. Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. Neurology 2019;93(19):e1756-67. [DOI: 10.1212/WNL.0000000000008441] [PMID: ] - DOI - PMC - PubMed
INSPIRE 2015 {published data only}
    1. Geberhiwot T, Byrne B, Eyskens F, Hughes D, Kissel J, Mengel E, et al. An international, phase 3, switchover study of reveglucosidase alfa (BMN 701) in subjects with late-onset pompe disease (INSPIRE study). Journal of Inherited Metabolic Disease 2015;38(1 Suppl):[no pagination]. [ABSTRACT NO.: O-055]
Kishnani 2009 {published data only}
    1. Kishnani PS, Corzo D, Leslie ND, Gruskin D, Van der Ploeg A, Clancy JP, et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatric Research 2009;66(3):329-35. - PMC - PubMed
Kronn 2022 {published data only}
    1. Kronn D, Davison J, Brassier A, Broomfield A, Hahn SH, Kumada S, et al. Mini-COMET study: safety, biomarker, and efficacy data after avalglucosidase alfa dosing for ≥ 97 weeks in participants with infantile-onset pompe disease (IOPD) previously treated with alglucosidase alfa who had demonstrated clinical decline. Molecular Genetics and Metabolism 2022;135(2):S68.
NCT04094948 {published data only}
    1. NCT04094948. Phase II clinical trial of clenbuterol in adult patients with Pompe disease. clinicaltrials.gov/ct2/show/NCT04094948 (first posted 2019) (last accessed 22 April 2022).

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References to other published versions of this review

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