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.

https://www.zora.uzh.ch/id/eprint/171593/1/1-s2.0-S2214426919300096-main.pdf

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.

Although diffusion-weighted (DW) MR imaging is still at an early stage of investigation as a tool for the evaluation of the pancreas, evidence from published literature suggests that DW MR imaging has a potential to depict and characterize a variety of focal pancreatic lesions.

Diffusion-weighted MR Imaging of the Pancreas: Current Status and Recommendations

Background
Accurate pre-operative imaging in pancreatic cancer helps avoid unsuccessful surgical explorations and forewarns surgeons regarding aberrant anatomy. This review aimed to determine the role of current imaging modalities in the diagnosis and determination of resectability of pancreatic and peri-ampullary adenocarcinomas.

Multimodality imaging of pancreatic ductal adenocarcinoma: a review of the literature

Cardiovascular Magnetic Resonance (CMR) is recognised as a valuable clinical tool which in a single scan setting can assess ventricular volumes and function, myocardial fibrosis, iron loading, flow quantification, tissue characterisation and myocardial perfusion imaging. The advent of CMR using extrinsic and intrinsic contrast-enhanced protocols for tissue characterisation have dramatically changed the non-invasive work-up of patients with suspected or known cardiomyopathy. Although the technique initially focused on the in vivo identification of myocardial necrosis through the late gadolinium enhancement (LGE) technique, recent work highlighted the ability of CMR to provide more detailed in vivo tissue characterisation to help establish a differential diagnosis of the underlying aetiology, to exclude an ischaemic substrate and to provide important prognostic markers. The potential application of CMR in the clinical approach of a patient with suspected non-ischaemic cardiomyopathy is discussed in this review.

/pdf/diagnostic-and-prognostic-value-of-cardiovascular-magnetic-1s20m8cspn.pdf

Diagnostic and prognostic value of cardiovascular magnetic resonance in non-ischaemic cardiomyopathies

Fabry disease is an X-linked lysosomal storage disease caused by loss of alpha galactosidase A (α-Gal A) activity and is characterized by progressive accumulation of globotriaosylceramide and its analogs in all cells and tissues. Although enzyme replacement therapy (ERT) is considered standard of care, the long-term effects of ERT on renal and cardiac manifestations remain uncertain and thus novel therapies are desirable. We herein report preclinical studies evaluating systemic messenger RNA (mRNA) encoding human α-Gal A in wild-type (WT) mice, α-Gal A-deficient mice, and WT non-human primates (NHPs). The pharmacokinetics and distribution of h-α-Gal A mRNA encoded protein in WT mice demonstrated prolonged half-lives of α-Gal A in tissues and plasma. Single intravenous administration of h-α-Gal A mRNA to Gla-deficient mice showed dose-dependent protein activity and substrate reduction. Moreover, long duration (up to 6 weeks) of substrate reductions in tissues and plasma were observed after a single injection. Furthermore, repeat i.v. administration of h-α-Gal A mRNA showed a sustained pharmacodynamic response and efficacy in Fabry mice model. Lastly, multiple administrations to non-human primates confirmed safety and translatability. Taken together, these studies across species demonstrate preclinical proof-of-concept of systemic mRNA therapy for the treatment of Fabry disease and this approach may be useful for other lysosomal storage disorders.

Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates

This study compared the results of multislice computed tomography (MSCT) and high-field magnetic resonance imaging (MRI) in the diagnostic evaluation of pancreatic masses Forty patients with clinical and ultrasonographic evidence of pancreatic masses underwent MSCT and MRI The majority of patients (31/40, 78%) had proven malignant pancreatic tumours (24 ductal adenocarcinoma, six mucinous cystadenocarcinoma, one intraductal papillary mucinous carcinoma), whereas the remaining patients (9/40, 22%) were found to have benign lesions (eight chronic pancreatitis, one serous cystadenoma) Results of the imaging studies were compared with biopsy (n=33) and/or histology (n=7) findings to calculate sensitivity, specificity, accuracy and positive (PPV) and negative (NPV) predictive value for correct identification of tumours and evaluation of resectability of malignancies Both for tumour identification and resectability, MSCT and MRI had comparable diagnostic accuracy, with no statistically significant differences between them Tumour identification CT/MRI: accuracy 98/98%, sensitivity 100/100%, specificity 88/88%, PPV 97/97%, NPV 100/100%; tumour resectability CT/MRI: accuracy 94/90%, sensitivity 92/88%, specificity 100/100%, PPV 100/100%, NPV 78/70% MRI represents a valid diagnostic alternative to CT in the evaluation of patients with pancreatic masses, both for correct identification and characterisation of primary lesions and to establish resectability in the case of malignancies New high-field MRI equipment allows optimal imaging quality with good contrast resolution in evaluating the upper abdomen

Comparison between multislice CT and MR imaging in the diagnostic evaluation of patients with pancreatic masses.

Purpose
The authors sought to evaluate whether the reacquisition of images 3 h after administration of radiotracer improves the sensitivity of fluorine-18 fluorodeoxyglucose positron emission tomography computed tomography ([18F]-FDG PET/CT) in patients with suspicious breast lesions.

Dual-time-point [18F]-FDG PET/CT in the diagnostic evaluation of suspicious breast lesions.

Anderson–Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the enzyme α-galactosidase A (α-Gal A) and subsequent cellular storage of the enzyme's substrate globotriaosylceramide (Gb3) and related glycosphingolipids. We report a case of Anderson–Fabry disease with cardiac involvement evaluated with cardiovascular MRI. Disease progression was observed despite enzyme replacement therapy.

https://www.birpublications.org/doi/pdf/10.1259/bjr/52065763

Cardiac magnetic resonance imaging illustrating Anderson–Fabry disease progression

Purpose
Anderson-Fabry disease is a multisystemic disorder of lipid metabolism secondary to X-chromosome alterations and is frequently associated with cardiac manifestations such as left ventricular (LV) hypertrophy, gradually leading to an alteration in cardiac performance. The purpose of this study was to monitor, using magnetic resonance imaging (MRI), any changes produced by enzyme replacement therapy with agalsidase beta at the cardiac level in patients with Anderson-Fabry disease.

Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy

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Comparison between multislice CT and MR imaging in the diagnostic evaluation of patients with pancreatic masses.

Dual-time-point [18F]-FDG PET/CT in the diagnostic evaluation of suspicious breast lesions.

Cardiac magnetic resonance imaging illustrating Anderson–Fabry disease progression

Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy