Evidence map›Paper›PMID 41769220›Full record

ReviewTherapeutic advances in rare disease

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease.

Robert J Hopkin, Barry J Byrne, Mazen M Dimachkie, Priya S Kishnani, Tahseen Mozaffar, Mark Roberts, Benedikt Schoser, Nadine A M E van der Beek, Ans T van der Ploeg, Stephan Wenninger and 7 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Therapeutic advances in rare disease. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Robert J HopkinDivision of Human Genetics, Department of Pediatrics Cincinnati Children's Hospital Medical Center, College of Medicine, Cincinnati Children's Hospital, University of Cincinnati, Burnet Campus, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Barry J ByrneUniversity of Florida, Gainesville, FL, USA.
Mazen M DimachkieDepartment of Neurology, University of Kansas Medical Center, Kansas City, KS, USA.
Priya S KishnaniDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Tahseen MozaffarDepartment of Neurology, University of California, Irvine, Irvine, CA, USA.
Mark RobertsSalford Royal NHS Foundation Trust, Salford, UK.
Benedikt SchoserFriedrich-Baur-Institute, Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.
Nadine A M E van der BeekDepartment of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Ans T van der PloegDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Stephan WenningerFriedrich-Baur-Institute, Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.
Jon BrudvigAmicus Therapeutics, Inc., Princeton, NJ, USA.
Brian FoxAmicus Therapeutics, Inc., Princeton, NJ, USA.
Fred HoldbrookAmicus Therapeutics, Inc., Princeton, NJ, USA.
Vipul JainAmicus Therapeutics, Inc., Princeton, NJ, USA.
Franklin JohnsonAmicus Therapeutics, Inc., Princeton, NJ, USA.
Jennifer ZhangAmicus Therapeutics, Inc., Princeton, NJ, USA.
Giancarlo ParentiDepartment of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Late-onset Pompe disease (LOPD) is a rare inherited disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to an accumulation of lysosomal glycogen in tissues, profoundly affecting muscles. Patients with LOPD typically have some residual GAA activity but experience progressive skeletal muscle dysfunction resulting in muscle weakness and respiratory failure. Enzyme replacement therapy (ERT) with alglucosidase alfa, a recombinant human GAA (rhGAA), was the first disease-specific therapy for Pompe disease. Despite efficacy in the first years of use, many patients receiving alglucosidase alfa experience a decline in function over time. This may reflect the inherent challenges associated with rhGAA ERT, such as enzyme inactivation at the near-neutral pH of blood, inefficient target cell uptake, and a necessity for complete lysosomal processing once inside target cells. Cipaglucosidase alfa, a second-generation rhGAA, aims to address these challenges through natural enrichment with bis-mannose-6-phosphate-containing

Indexed as

cipaglucosidase alfaLOPDmiglustatPompe disease

Identifiers

PMID41769220
PMCPMC12946408

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.