The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

doi:10.1016/j.ymgmr.2019.100454

Review

. 2019 Feb 6:19:100454.

doi: 10.1016/j.ymgmr.2019.100454. eCollection 2019 Jun.

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Dominique P Germain¹, Perry M Elliott², Bruno Falissard³, Victor V Fomin⁴, Max J Hilz⁵, Ana Jovanovic⁶, Ilkka Kantola⁷, Aleš Linhart⁸, Renzo Mignani⁹, Mehdi Namdar¹⁰, Albina Nowak¹¹, João-Paulo Oliveira¹², Maurizio Pieroni¹³, Miguel Viana-Baptista¹⁴, Christoph Wanner¹⁵, Marco Spada¹⁶

Affiliations

¹ French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France.
² University College London and Barts Heart Centre, London, United Kingdom.
³ INSERM U1018, University of Paris-Sud, University of Paris-Descartes, Paris, France.
⁴ Department of Internal Diseases No.1, I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation.
⁵ Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.
⁶ Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, United Kingdom.
⁷ Division of Medicine, Turku University Hospital, University of Turku, Turku, Finland.
⁸ Second Department of Medicine - Department of Cardiovascular Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
⁹ Department of Nephrology, Infermi Hospital, Rimini, Italy.
¹⁰ Service de Cardiologie, Hôpitaux Universitaires de Genève, Geneva, Switzerland.
¹¹ Department of Internal Medicine, University Hospital of Zurich and University of Zurich, Zurich, Switzerland.
¹² Department of Genetics, São João Hospital Centre and Faculty of Medicine and "Instituto de Investigação e Inovação em Saúde (iS3)", University of Porto, Porto, Portugal.
¹³ Cardiovascular Department, San Donato Hospital, Arezzo, Italy.
¹⁴ Serviço de Neurologia, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental; CEDOC Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisboa, Portugal.
¹⁵ Division of Nephrology, University Clinic, University of Würzburg, Würzburg, Germany.
¹⁶ Department of Paediatrics, University of Torino, Torino, Italy.

PMID: 30775256
PMCID: PMC6365982
DOI: 10.1016/j.ymgmr.2019.100454

Review

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Dominique P Germain et al. Mol Genet Metab Rep. 2019.

. 2019 Feb 6:19:100454.

doi: 10.1016/j.ymgmr.2019.100454. eCollection 2019 Jun.

Authors

Affiliations

¹ French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France.
² University College London and Barts Heart Centre, London, United Kingdom.
³ INSERM U1018, University of Paris-Sud, University of Paris-Descartes, Paris, France.
⁴ Department of Internal Diseases No.1, I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation.
⁵ Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.
⁶ Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, United Kingdom.
⁷ Division of Medicine, Turku University Hospital, University of Turku, Turku, Finland.
⁸ Second Department of Medicine - Department of Cardiovascular Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
⁹ Department of Nephrology, Infermi Hospital, Rimini, Italy.
¹⁰ Service de Cardiologie, Hôpitaux Universitaires de Genève, Geneva, Switzerland.
¹¹ Department of Internal Medicine, University Hospital of Zurich and University of Zurich, Zurich, Switzerland.
¹² Department of Genetics, São João Hospital Centre and Faculty of Medicine and "Instituto de Investigação e Inovação em Saúde (iS3)", University of Porto, Porto, Portugal.
¹³ Cardiovascular Department, San Donato Hospital, Arezzo, Italy.
¹⁴ Serviço de Neurologia, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental; CEDOC Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisboa, Portugal.
¹⁵ Division of Nephrology, University Clinic, University of Würzburg, Würzburg, Germany.
¹⁶ Department of Paediatrics, University of Torino, Torino, Italy.

PMID: 30775256
PMCID: PMC6365982
DOI: 10.1016/j.ymgmr.2019.100454

Abstract

Background: Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations.

Methods: We conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. This article presents the findings in adult male patients.

Results: Clinical evidence for the efficacy of ERT in adult male patients was available from 166 publications including 36 clinical trial publications. ERT significantly decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types, slows the decline in estimated glomerular filtration rate, and reduces/stabilizes left ventricular mass and cardiac wall thickness. ERT also improves nervous system, gastrointestinal, pain, and quality of life outcomes.

Conclusions: ERT is a disease-specific treatment for patients with Fabry disease that may provide clinical benefits on several outcomes and organ systems. Better outcomes may be observed when treatment is started at an early age prior to the development of organ damage such as chronic kidney disease or cardiac fibrosis. Consolidated evidence suggests a dose effect. Data described in male patients, together with female and paediatric data, informs clinical practice and therapeutic goals for individualized treatment.

Keywords: ACEi, angiotensin-converting enzyme inhibitor; ANS, autonomic nervous system; ARB, angiotensin receptor blocker; BPI, Brief Pain Inventory; CES-D, Center for Epidemiologic Studies Depression Scale; CNS, central nervous system; CR, case report; CT, clinical trial; ECG, electrocardiogram/electrocardiography; EOW, every other week; ERT, enzyme replacement therapy; Fabry disease; GFR, glomerular filtration rate; GI, gastrointestinal; GL-3, globotriaosylceramide; IENFD, intra-epidermal nerve fibre density; IVST, intraventricular septum thickness; LPWT, left posterior wall thickness; LVEDD, left ventricular end-diastolic diameter; LVEF, left ventricular ejection fraction; LVH, left ventricular hypertrophy; LVM, left ventricular mass; LVMi, left ventricular mass index; LVWT, left ventricular wall thickness; MG, mixed gender; MRI, magnetic resonance imaging; MWT, maximal wall thickness; NYHA, New York Heart Association; OS, observational study; PNS, peripheral nervous system; QoL, quality of life; RCT, randomized controlled trial; SF-36, 36-item Short Form Health Survey; TIA, transient ischaemic attack; WMH, white matter hyperintensities.; adult male patients; agalsidase alfa; agalsidase beta; eGFR, estimated glomerular filtration rate; enzyme replacement therapy; lyso-GL-3, globotriaosylsphingosine; systematic literature review.

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References

1. Germain D.P. Fabry disease. Orphanet J. Rare Dis. 2010;5:30. - PMC - PubMed
1. Waldek S., Patel M., Banikazemi M. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet. Med. 2009;11:790–796. - PubMed
1. Eng C.M., Germain D.P., Banikazemi M. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet. Med. 2006;8:539–548. - PubMed
1. Germain D.P. A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contrib. Nephrol. 2001;136:234–240. - PubMed
1. Germain D.P., Avan P., Chassaing A., Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med. Genet. 2002;3:10. - PMC - PubMed

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[1] Germain D.P. Fabry disease. Orphanet J. Rare Dis. 2010;5:30. - PMC - PubMed

[2] Germain D.P. Fabry disease. Orphanet J. Rare Dis. 2010;5:30. - PMC - PubMed

[3] Waldek S., Patel M., Banikazemi M. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet. Med. 2009;11:790–796. - PubMed

[4] Waldek S., Patel M., Banikazemi M. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet. Med. 2009;11:790–796. - PubMed

[5] Eng C.M., Germain D.P., Banikazemi M. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet. Med. 2006;8:539–548. - PubMed

[6] Eng C.M., Germain D.P., Banikazemi M. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet. Med. 2006;8:539–548. - PubMed

[7] Germain D.P. A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contrib. Nephrol. 2001;136:234–240. - PubMed

[8] Germain D.P. A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contrib. Nephrol. 2001;136:234–240. - PubMed

[9] Germain D.P., Avan P., Chassaing A., Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med. Genet. 2002;3:10. - PMC - PubMed

[10] Germain D.P., Avan P., Chassaing A., Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med. Genet. 2002;3:10. - PMC - PubMed

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The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Affiliations

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

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