Mutation identification of Fabry disease in families with other lysosomal storage disorders

2012 ◽  
Vol 84 (3) ◽  
pp. 281-285 ◽  
Author(s):  
A Zampetti ◽  
L Fania ◽  
D Antuzzi ◽  
F Giurdanella ◽  
M Gnarra ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Mutation Identification ◽  
Storage Disorders

Nanotechnology‐based approaches for treating lysosomal storage disorders, a focus on Fabry disease

2020 ◽  
Author(s):  
Ibane Abasolo ◽  
Joaquin Seras‐Franzoso ◽  
Marc Moltó‐Abad ◽  
Vanessa Díaz‐Riascos ◽  
José Luis Corchero ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Storage Disorders

scholarly journals FDA orphan drug designations for lysosomal storage disorders – a cross sectional analysis

2020 ◽  
Author(s):  
Sven F. Garbade ◽  
Matthias Zielonka ◽  
Konstantin Mechler ◽  
Stefan Kölker ◽  
Georg F. Hoffmann ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Small Molecules ◽  
Orphan Drug ◽  
Pompe Disease ◽  
Gaucher Disease ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Mps I ◽  
Storage Disorders

AbstractPurposeTo provide a quantitative clinical-regulatory insight into the status of FDA orphan drug designations for compounds intended to treat lysosomal storage disorders (LSD’s).MethodsAssessment of the drug pipeline through analysis of the FDA database for orphan drug designations with descriptive and comparative statistics.ResultsBetween 1983 and 2019, 124 orphan drug designations were granted by the FDA for compounds intended to treat 28 lysosomal storage diseases. Orphan drug designations focused on Gaucher disease (N=16), Pompe disease (N=16), Fabry disease (N=10), MPS II (N=10), MPS I (N=9), and MPS IIIA (N=9), and included enzyme replacement therapies, gene therapies, and small molecules, and others. Twenty-three orphan drugs were approved for the treatment of 11 LSDs. Gaucher disease (N=6), cystinosis (N=5), Pompe disease (N=3), and Fabry disease (N=2) had multiple approvals, CLN2, LAL-D, MPS I, II, IVA, VI, and VII one approval each. This is an increase of nine more approved drugs and four more treatable LSD’s (CLN2, MPS VII, LAL-D, and MPS IVA) since 2013. Mean time between orphan drug designation and FDA approval was 89.7 SD 55.00 (range 8-203, N=23) months.ConclusionsThe development pipeline is growing and evolving into diversified small molecules and gene therapy. CLN2 was the first and only LSD with an approved therapy directly targeted to the brain. Newly approved products included “me-too” – enzymes and innovative compounds such as the first pharmacological chaperone for the treatment of Fabry disease.

scholarly journals Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry

2016 ◽  
Vol 62 (9) ◽  
pp. 1248-1254 ◽  
Author(s):  
Silvia Tortorelli ◽  
Coleman T Turgeon ◽  
Dimitar K Gavrilov ◽  
Devin Oglesbee ◽  
Kimiyo M Raymond ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Fabry Disease ◽  
Flow Injection ◽  
Lysosomal Storage Disorders ◽  
Tandem Mass ◽  
Lysosomal Storage ◽  
Peroxisomal Biogenesis ◽  
Peroxisomal Biogenesis Disorder ◽  
Storage Disorders

Abstract BACKGROUND Newborn screening for lysosomal storage disorders (LSD) has revealed that late-onset variants of these conditions are unexpectedly frequent and therefore may evade diagnosis. We developed an efficient and cost-effective multiplex assay to diagnose six LSDs and several peroxisomal disorders in patients presenting with diverse phenotypes at any age. METHODS Three 3-mm dried blood spot (DBS) punches were placed into individual microtiter plates. One disc was treated with a cocktail containing acid sphingomyelinase-specific substrate and internal standard (IS). To the second DBS we added a cocktail containing substrate and IS for β-glucosidase, acid α-glucosidase, α-galactosidase A, galactocerebrosidase, and α-L-iduronidase. The third DBS was extracted with methanol containing d4-C26 lysophosphatidylcholine as IS and stored until the enzyme plates were combined and purified by liquid–liquid and solid-phase extraction. The extracts were evaporated, reconstituted with the extract from the lysophosphatidylcholine plate, and analyzed by flow injection tandem mass spectrometry. RESULTS Reference intervals were determined by analysis of 550 samples from healthy controls. DBS from confirmed patients with 1 of the 6 LSDs (n = 33), X-adrenoleukodystrophy (n = 9), or a peroxisomal biogenesis disorder (n = 5), as well as carriers for Fabry disease (n = 17) and X-adrenoleukodystrophy (n = 5), were analyzed for assay validation. Prospective clinical testing of 578 samples revealed 25 patients affected with 1 of the detectable conditions. CONCLUSIONS Our flow injection tandem mass spectrometry approach is amenable to high-throughput population screening for Hurler disease, Gaucher disease, Niemann–Pick A/B disease, Pompe disease, Krabbe disease, Fabry disease, X-adrenoleukodystrophy, and peroxisomal biogenesis disorder in DBS.

scholarly journals FABRY DISEASE

2019 ◽  
Vol 3 (2) ◽  
Author(s):  
Dr. Roja VR ◽  
Mis. Preeti Sahu ◽  
Dr. Utsav Raj
Keyword(s):  
Fabry Disease ◽  
Genetic Disease ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Fatty Substance ◽  
Storage Disorders

Fabry Disease comes under hereditary familial diseases called lysosomal storage disorders. It is a genetic disease resulting from the accumulation of fatty substance in the cell, which is known as globotriaosylceramide.

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