Enzyme replacement therapy for Anderson-Fabry disease

Dib, Regina El; Pastores, Gregory M.

doi:10.1002/14651858.cd006663.pub2

Cited by 20 publications

(22 citation statements)

References 58 publications

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“…Our results are in agreement with previously published SRs on this issue (Connock et al , 2006; Lidove et al , 2007; Schaefer et al , 2009; El Dib and Pastores, 2010), although the search strategies and the inclusion criteria were different. Besides that, this is the first paper to present its results in form of a meta-analysis.…”

Section: Discussionsupporting

confidence: 92%

Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis

et al. 2012

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The specific treatment available for Fabry disease (FD) is enzyme replacement therapy (ERT) with agalsidase alfa or beta. A systematic review and meta-analysis was conducted to assess the efficacy and safety of ERT for FD. Only double-blind, randomized clinical trials (RCTs) comparing agalsidase alfa or beta and placebo were included. ERT with either agalsidase alfa or beta was considered similar for the purposes of analysis. Ten RCTs were identified, which showed improvements in neuropathic pain, in heart abnormalities and in globotriaosylceramide (GL-3) levels. A meta-analysis showed increased odds for fever, rigors, development of IgG antibodies to agalsidase, and no significant association with development of hypertension or reduction in the QRS complex duration on electrocardiogram. The RCTs included in this comparison enrolled few patients, were highly heterogeneous, and were focused mainly on surrogate endpoints, limiting any conclusions as to the real effect of ERT for FD. The available evidence suggests that response to ERT is variable across patient subgroups and that agalsidase may slow progression of FD, with slight improvement of existing changes. Nevertheless, many uncertainties remain, and further studies are necessary.

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Section: Discussionsupporting

confidence: 92%

Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis

et al. 2012

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“…A recent Cochrane review of evidence from randomised controlled trials shows that, compared to placebo, ERT reduces plasma Gb 3 and improves pain-related QoL. 22 The Cochrane review was complemented by a pooled analysis of cohort studies, and showed that patients taking agalsidase beta had a significantly lower incidence of cardiovascular, renal and cerebrovascular events than patients not taking ERT. 23 Various open-label studies have showed the efficacy and safety of ERT in children: ERT treatment decreases Gb 3 accumulation in tissue, plasma and urine, [24][25][26] and improves pain 27 and GI symptoms, 24,28,29 as well as QoL, energy and activity levels.…”

Section: Treatmentsmentioning

confidence: 99%

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

Germain¹,

Fouilhoux²,

et al. 2019

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Fabry disease (FD), a rare X-linked disease, can be treated with bi-monthly infusion of enzyme replacement therapy (ERT) to replace deficient α-galactosidase A (AGAL-A). ERT reduces symptoms, improves quality of life (QoL), and improves clinical signs and biochemical markers. ERT initiation in childhood could slow or stop progressive organ damage. Preventative treatment of FD from childhood is thought to avoid organ damage in later life, prompting a French expert working group to collaborate and produce recommendations for treating and monitoring children with FD. Organ involvement should be assessed by age 5 for asymptomatic boys (age 12-15 for asymptomatic girls), and immediately for children diagnosed via symptoms. The renal, cardiac, nervous and gastrointestinal systems should be assessed, as well as bone, skin, eyes, hearing, and QoL. The plasma biomarker globotriaosylsphingosine is also useful. ERT should be considered for symptomatic boys and girls with neuropathic pain, pathological albuminuria (≥3 mg/mmol creatinine), severe GI involvement and abdominal pain or cardiac involvement. ERT should be considered for asymptomatic boys from the age of 7. Organ involvement should be treated as needed. Early diagnosis and management of FD represents a promising strategy to reduce organ damage, morbidity and premature mortality in adulthood.

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“…Because of the limited severity of her symptoms, she was not undergoing enzyme replacement therapy with α-galactosidase A. 1,10 Her hypertension was treated with metoprolol. Her history was negative for the 4 pain phenotypes of Fabry disease (pain attacks, pain crises, evoked pain/hyperalgesia, and chronic pain) 1,11 and obstructive sleep apnea.…”

Section: Patientmentioning

confidence: 99%

General Anesthesia and Fabry Disease

Krüger

Nowak²,

Müller³

2017

A & A Case Reports

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Fabry disease is an inherited X-linked disorder characterized by the absence (in men) or deficiency (in women) in α-galactosidase A activity that causes a progressive accumulation of glycosphingolipids within lysosomes of cells of all the major organ systems. The subsequent organ damage that manifests in childhood and early adulthood presents a widely variable clinical picture of pain, hypertension, and cardiac, renal, nervous system, and lung dysfunction. We present 2 female patients with Fabry disease who required general anesthesia twice for gynecological and trauma surgery, respectively, and discuss their perioperative management based on new information in the medical literature.

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Enzyme replacement therapy for Anderson-Fabry disease

Abstract: Five small, poor quality randomised controlled trials provide no robust evidence for use of either agalsidase alfa and beta to treat Anderson-Fabry disease.

Cited by 20 publications

References 58 publications

Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis

Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

General Anesthesia and Fabry Disease

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