Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study

Myrl Holida¹, Aleš Linhart², Nicola Longo³, Eric Wallace⁴, Camilla Tøndel⁵, Derralynn Hughes⁶, David G Warnock⁴, Antonio Pisani⁷, François Eyskens⁸, Patrick Deegan⁹, Ulla Feldt-Rasmussen¹⁰, Ozlem Goker-Alpan¹¹, Ankit Mehta¹², Giovanni Piotti¹³, Vito Fichera¹³, Meng Wang¹³, Raul Chertkoff¹⁴, Stephen Waldek¹⁵, William R Wilcox¹⁶, John A Bernat¹⁷

Affiliations

¹ Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Health Care, Iowa City, IA, USA.
² Charles University, General University Hospital, Prague, Czech Republic.
³ Division of Clinical Genetics, Department of Human Genetics, University of Los Angeles California, Los Angeles, CA, USA.
⁴ Division of Nephrology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
⁵ Department of Clinical Science, University of Bergen and Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.
⁶ Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, UK.
⁷ Department of Public Health, University Federico II of Naples, Naples, Italy.
⁸ Antwerp University Hospital UZA, Edegem, Belgium.
⁹ Lysosomal Disorders Unit, Cambridge University Hospitals NHS Foundation Trust and University of Cambridge, Cambridge, UK.
¹⁰ Department of Nephrology and Endocrinology and Department of Growth and Reproduction, Rigshospitalet and Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark.
¹¹ Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA, USA.
¹² Baylor University Medical Center, Dallas, TX, USA.
¹³ Chiesi Farmaceutici S.p.A, Parma, Italy.
¹⁴ Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel.
¹⁵ University of Sunderland, Sunderland, UK.
¹⁶ Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
¹⁷ Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Health Care, Iowa City, IA, USA. john-bernat@uiowa.edu.

PMID: 41862950
DOI: 10.1186/s13023-026-04303-8

Free article

Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study

Myrl Holida et al. Orphanet J Rare Dis. 2026.

Free article

. 2026 Mar 20.

doi: 10.1186/s13023-026-04303-8. Online ahead of print.

Authors

Affiliations

¹ Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Health Care, Iowa City, IA, USA.
² Charles University, General University Hospital, Prague, Czech Republic.
³ Division of Clinical Genetics, Department of Human Genetics, University of Los Angeles California, Los Angeles, CA, USA.
⁴ Division of Nephrology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
⁵ Department of Clinical Science, University of Bergen and Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.
⁶ Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, UK.
⁷ Department of Public Health, University Federico II of Naples, Naples, Italy.
⁸ Antwerp University Hospital UZA, Edegem, Belgium.
⁹ Lysosomal Disorders Unit, Cambridge University Hospitals NHS Foundation Trust and University of Cambridge, Cambridge, UK.
¹⁰ Department of Nephrology and Endocrinology and Department of Growth and Reproduction, Rigshospitalet and Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark.
¹¹ Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA, USA.
¹² Baylor University Medical Center, Dallas, TX, USA.
¹³ Chiesi Farmaceutici S.p.A, Parma, Italy.
¹⁴ Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel.
¹⁵ University of Sunderland, Sunderland, UK.
¹⁶ Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
¹⁷ Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Health Care, Iowa City, IA, USA. john-bernat@uiowa.edu.

PMID: 41862950
DOI: 10.1186/s13023-026-04303-8

No abstract available

Keywords: Enzyme replacement therapy; Fabry disease; Lysosomal storage disorders; Open-label extension; Pegunigalsidase alfa; eGFR.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The study was conducted in accordance with the ethical principles of the Helsinki Declaration (1975, and as revised in 2000), Good Clinical Practice guidelines, and the ethical standards of the responsible committee on human experimentation (institutional and national). Ethics approval was obtained from the responsible committees at each participating site: Belgium (Ethisch Comité UZA), Czech Republic (Eticka komise Vseobecne fakultni nemocnice v Praze), Denmark (De Videnskabsetiske Komiteer for Region Hovedstaden Kongens Vænge 2, EC Commité), Italy (Comitato Etico Territoriale Campania 3), Norway (REK Midt), the United Kingdom (West of Scotland REC 1), and the United States of America (WCG IRB and University of Utah Institutional Review Board). Informed consent for being included in the study was obtained from all patients. Consent for publication: Not applicable Competing interests: MH has received speaker’s honoraria from Chiesi. AL has received grants/contracts from Sanofi; consulting fees from Amicus Therapeutics, Chiesi, and Sanofi; payment/honoraria from Amicus Therapeutics, Chiesi, Sanofi, and Takeda; and support for meeting attendance/travel from Amicus Therapeutics, Chiesi, and Sanofi; and has participated in advisory boards for Amicus Therapeutics and Sanofi. NL has received grants for clinical trials from Amicus Therapeutics, Chiesi and Protalix Biotherapeutics, Sanofi, and Takeda; consulting fees from Amicus Therapeutics, Protalix Biotherapeutics, Sanofi, and Takeda; and travel support and speaker’s honoraria for presentations from Chiesi. EW has received grants for clinical trials from Chiesi, Idorsia Pharmaceuticals, Sanofi, and uniQure; consulting fees from Chiesi, Sanofi, and Sangamo Therapeutics; speaker’s honoraria from Chiesi, Natera, and Sanofi; and support for meeting attendance/travel from Chiesi and Sanofi. CT has received contracts for clinical trials on Fabry disease from Chiesi, Idorsia Pharmaceuticals, and Sanofi; consulting fees from AceLink Therapeutics, Amicus Therapeutics, Chiesi, and Sanofi; speaker’s honoraria from Amicus Therapeutics, Chiesi, and Sanofi; and support for meeting attendance/travel from Chiesi and Sanofi; and has participated in advisory boards from Amicus Therapeutics, Chiesi, and Sanofi. DH has received grants/contracts from Chiesi; consulting fees from Amicus Therapeutics, Chiesi, Idorsia Pharmaceuticals, Sangamo Therapeutics, Sanofi, Spur, and Takeda; and support for meeting attendance/travel and speaker’s honoraria from Amicus Therapeutics, Chiesi, Sanofi, and Takeda; and has participated in advisory boards for uniQure. DGW has received travel/accommodation support for lectures from Chiesi and consulting fees from AceLink Therapeutics, Crosswalk Therapeutics, Relay Therapeutics, and Vera Therapeutics. AP has no conflicts of interest to report. FE has received consulting fees, travel support, and fees for participation in advisory boards from Chiesi. PD has received support for meeting attendance/travel from Chiesi, and speaker’s payment/honoraria and consulting fees from Chiesi and Protalix Biotherapeutics. UFR has received travel grants and lecture fees and participated in advisory boards for Chiesi, Freeline, Sanofi, Shire, and Takeda, and received research grants from Genzyme and Shire. UFR’s research salary was sponsored by a grant from Kirsten and Freddy Johansen’s Fund. OGA has received reimbursements for grants/contracts related to Fabry disease from Chiesi and Sanofi and honoraria for lectures/presentations and travel support from Chiesi. AM has received payment/honoraria from Amgen, AstraZeneca, Bayer, and Sanofi; and consulting fees from Amgen, Chiesi, and Sanofi; and has participated in advisory boards for Chiesi and Sanofi. GP, MW, and VF are full-time employees of Chiesi. RC was a full-time employee of Protalix Biotherapeutics at the time of study conduct and analysis and is now a consultant to Protalix Biotherapeutics; and owns stocks/stock options in Protalix Biotherapeutics. SW has received consulting fees from Protalix Biotherapeutics. WRW has received research grants from Amicus Therapeutics; contracts for clinical trials from 4D Molecular Therapeutics, Alexion Pharmaceuticals, Amgen, Amicus Therapeutics, BioMarin Pharmaceutical, Sangamo Therapeutics, Sanofi, Takeda, and uniQure; consulting fees from Spark Therapeutics and uniQure; and payment for an expert testimony from a legal firm representing Sanofi; has participated in advisory boards for BioMarin Pharmaceutical and Sanofi; and is a member of the Board of Directors of the American College of Medical Genetics. JAB has received grants for clinical trials from AVROBIO, BioMarin Pharmaceutical, Chiesi, Denali Therapeutics, Idorsia Pharmaceuticals, Pfizer, Protalix Biotherapeutics, Sangamo Therapeutics, Sanofi, Takeda, and Travere Therapeutics; consulting fees for advisory board meetings from Chiesi and Mirum Pharmaceuticals; support for meeting attendance/travel from Chiesi; and a speaker’s honorarium from the Fabry Support & Information Group.

References

1. Mehta A, Hughes DA. Fabry disease. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®). edn. Seattle WA: University of Washington; 2002 [updated April 11, 2024].
1. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;530.
1. Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018;124(3):189–203.
1. Azevedo O, Gago MF, Miltenberger-Miltenyi G, Sousa N, Cunha D. Fabry disease therapy: state-of-the-art and current challenges. Int J Mol Sci. 2020;22(1):206.
1. Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015;52(5):353–58.

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Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study

Affiliations

Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study

Authors

Affiliations

Conflict of interest statement

References

LinkOut - more resources

Full Text Sources

Research Materials

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