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

Germain, Dominique P.; Elliott, Perry; Falissard, Bruno; Fоmin, Victоr; Hilz, Max J.; Jovanović, Ana; Kantola, Ilkka; Linhart, Aleš; Mignani, Renzo; Namdar, Mehdi; Nowak, Albina; Oliveira, João Paulo; Pieroni, Maurizio; Viana-Baptista, Miguel; Wanner, Christoph; Spada, Marco

doi:10.1016/j.ymgmr.2019.100454

Cited by 153 publications

(138 citation statements)

References 196 publications

(737 reference statements)

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“…Enzyme replacement therapy with recombinant enzymes is the standard of care of treatment in Fabry disease (FD). Currently, two recombinant enzymes—agalsidase alfa (Replagal ® , Takeda Pharmaceutical Company, Ltd., Cambridge, MA, USA) and agalsidase beta (Fabrazyme ® , Sanofi Genzyme, Cambridge, MA, USA)—are available for patients with FD in the European Union, while only agalsidase beta is approved for use by US Food and Drug Administartion (FDA) in the USA [ 3 , 4 , 5 ]. Enzyme replacement therapy (ERT) with either of the recombinant enzymes has proven to be successful in mitigating the pathological effects and improving the quality of life in FD patients.…”

Section: Introductionmentioning

confidence: 99%

The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease

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Fikry

Veligatla

et al. 2020

IJMS

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Fabry disease (FD) is an X-linked lysosomal disorder caused by mutations in GLA gene resulting in lack of or faulty α-galactosidase A (α-GalA) enzyme. Enzyme replacement therapy (ERT) with recombinant human α-GalA enzyme (agalsidase) is the standard treatment option for FD. Infusion-related reactions (IRRs), with symptoms ranging from rigors, to fever, pain, vomiting, angioedema and diarrhea, are often seen due to immune response against the exogenous enzyme. To elucidate the mechanisms causing the IRRs in FD, eight patients who developed IRRs were investigated. All, except one, tested negative for agalsidase-specific IgE and had normal tryptase levels. Circulating dendritic cells were drastically reduced during IRRs, suggesting possible sequestration to the sites of inflammation. An increase in NK cells and a decrease in T cells were also observed. Cytokines IL-4, IL-8 and TNF-α showed a significant increase, indicating nonspecific degranulation of mast cells. All IRRs were managed successfully using a combination of standard premedications and mast cell stabilizers without any interruption of therapy. Taken together, the results indicate crosstalk between immune cells resulting in IgE-independent mast-cell-specific allergic inflammation. Mast cell stabilizers could be used to control IRRs and for safe reintroduction of agalsidase in patients previously treated with ERT.

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Section: Introductionmentioning

confidence: 99%

The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease

Limgala

Fikry

Veligatla

et al. 2020

IJMS

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“…Several treatments are available for FD. Three systematic literature reviews of Enzyme Replacement Therapy (ERT) have found significant decreases in GB3 accumulation and improvement in Fabry symptoms and quality of life for adult male [56], female [57] and paediatric Fabry populations [58]. ERT mimics the naturally-occurring α-Gal enzyme and breaks down GB3 throughout the body, including kidney cells, preventing further accumulation of GB3.…”

Section: Treatmentmentioning

confidence: 99%

The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia

et al. 2020

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Background: Fabry disease (FD) is a rare, lysosomal storage disorder caused by the absence or deficiency of the enzyme alpha-galactosidase A (α-Gal A) that leads to the abnormal accumulation of the lipid globotriaosylceramide (GB3) in a variety of cell types and tissues throughout the body. FD has an x-linked inheritance pattern. Previously thought to be only carriers, females can also experience FD symptomatology. Symptoms vary in type and severity from patient to patient and tend to increase in severity with age. FD symptoms are non-specific and may be shared with those of other diseases. Misdiagnoses and diagnostic delays are common, often resulting in progressive, irreversible tissue damage. The estimated prevalence of FD in the general population is 1:40,000 to 1:117,000 individuals. However, it is estimated that the prevalence of FD in the dialysis population is 0.12 to 0.7%. Little is known about the prevalence of FD in the broader Chronic Kidney Disease (CKD) population. Methods: This is an epidemiological study of the prevalence of FD in CKD patents identified from the public renal speciality practices in Queensland, Australia. A cascade approach to screening is being employed with dried blood spot testing for blood levels of alpha-galactosidase A (Alpha-Gal), with follow-up testing for patients with abnormal results by plasma levels of globotriaosylsphingosine (Lyso-GB3) for females and non-definitive cases in males. A diagnosis of FD is confirmed through genetic testing of the GLA gene in cases suspected of having FD based upon Alpha-Gal and Lyso-GB3 testing. Discussion: Expected outcomes of this study include more information about the prevalence of FD at all stages of CKD, including for both males and females. The study may also provide information about common characteristics of FD to assist with diagnosis and optimal management/treatment. Screening is also available for family members of diagnosed patients, with potential for early diagnosis of FD and intervention for those individuals. Trial registration: Queensland Health Database of Research Activity (DORA, https://dora.health.qld.gov.au) pj09946 (Registered 3rd July 2017).

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“…Lastly, migalastat is expected, according to current and emerging evidence, to have better effects on cardiac outcomes and gastrointestinal symptoms than ERT, potentially improving both patient morbidity and quality of life. It should be acknowledged that further studies are required to investigate the long-term benefits of migalastat therapy, while some evidence is present for sustained activity of ERT to slow the decline in estimated glomerular filtration rate, and reduce/stabilize left ventricular mass and cardiac wall thickness [27].…”

Section: Migalastat: Role In the Therapy Of Fdmentioning

confidence: 99%

The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts

Chimenti

Nencini

Pieruzzi

et al. 2020

Orphanet J Rare Dis

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Background: Oral migalastat has recently been approved for the treatment of Anderson-Fabry disease (FD) in patients aged ≥16 years with amenable mutations on the basis of two phase III trials, FACETS and ATTRACT. However, with the introduction of migalastat into clinical practice, it is important to correctly identify the patients who may gain the most benefits from this therapy. Due to the relatively recent availability of migalastat, its role in clinical practice still has to be included in guidelines or recommendations. On these bases, a multidisciplinary group of Italian Experts in the treatment of FD has run the GALA project, with the aim to collect the opinions of expert physicians and to propose some starting points for an experience-based use of migalastat. Results: Overall, although studies and data from longer-term follow-up with migalastat are still emerging, available evidence is consistent in showing that this molecule does represent a suitable therapy for the treatment of FD, in patients aged ≥16 years and with amenable mutations. The use of migalastat as an oral option appears to be overall safe, and experience thus far indicates potential for improving quality of life, controlling GI symptoms, stabilizing renal function and reducing cardiac hypertrophy. Conclusion: Migalastat can be considered either as a first-line therapygiven its efficacy, extensive tissue penetration, convenient oral regimen, and the current limited therapeutic options availableor in patients on enzyme-replacement therapy (ERT) who experience side effects, with poor compliance to chronic i.v. therapy, or with clinical evidence of progression of the disease.

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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

Cited by 153 publications

References 196 publications

The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease

The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease

The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia

The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts

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