scholarly journals Accumulation of Ordered Ceramide-Cholesterol Domains in Farber Disease Fibroblasts

2013 ◽  
pp. 71-77 ◽  
Author(s):  
Natalia Santos Ferreira ◽  
Michal Goldschmidt-Arzi ◽  
Helena Sabanay ◽  
Judith Storch ◽  
Thierry Levade ◽  
...  
Keyword(s):  
Farber Disease

Myoclonic epilepsy as affection of central nervous system in Farber disease

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
N Schmitz ◽  
M Baz Bartels ◽  
A Jarisch ◽  
P Bader ◽  
M Rohrbach ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Myoclonic Epilepsy ◽  
Farber Disease

Farber disease: characterization of behavior and brain pathology in a new murine model

2014 ◽  
Vol 111 (2) ◽  
pp. S93
Author(s):  
Tomo Sawada ◽  
Shaalee Dworski ◽  
Jakub Sikora ◽  
Matthew Micsenyi ◽  
Jeffrey A. Medin ◽  
...  
Keyword(s):  
Murine Model ◽  
Brain Pathology ◽  
Farber Disease

87. Outcomes of testing Lentivector-mediated Gene Therapy for Farber Disease in Non-Human Primates

2009 ◽  
Vol 96 (2) ◽  
pp. S31
Author(s):  
Jeffrey Medin ◽  
Jagdeep Walia ◽  
Anton Neschadim ◽  
Xin Fan ◽  
Melissa Madden ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Farber Disease

scholarly journals Farber Disease - A Case Report

2020 ◽  
Vol 08 (12) ◽  
Author(s):  
Dr Sunil Kumar Agarwalla ◽  
Keyword(s):  
Case Report ◽  
Farber Disease

Farber disease (acid ceramidase deficiency): Data from an ongoing natural history study

2019 ◽  
Vol 126 (2) ◽  
pp. S136-S137
Author(s):  
Alexander Solyom ◽  
Carlos Ferreira ◽  
John Mitchell ◽  
Norberto Guelbert ◽  
Neslihan Mungan ◽  
...  
Keyword(s):  
Natural History ◽  
Acid Ceramidase ◽  
Natural History Study ◽  
Farber Disease ◽  
Ceramidase Deficiency

scholarly journals Acid Sphingomyelinase Deficiency Ameliorates Farber Disease

2019 ◽  
Vol 20 (24) ◽  
pp. 6253 ◽  
Author(s):  
Nadine Beckmann ◽  
Katrin Anne Becker ◽  
Stephanie Kadow ◽  
Fabian Schumacher ◽  
Melanie Kramer ◽  
...  
Keyword(s):  
Therapeutic Target ◽  
Treatment Options ◽  
Acid Sphingomyelinase ◽  
Proof Of Concept ◽  
Lysosomal Storage ◽  
Acid Ceramidase ◽  
Farber Disease ◽  
Ceramidase Deficiency ◽  
Ceramide Accumulation ◽  
Deficient Mice

Farber disease is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation. No treatments for Farber disease are clinically available, and affected patients have a severely shortened lifespan. We have recently reported a novel acid ceramidase deficiency model that mirrors the human disease closely. Acid sphingomyelinase is the enzyme that generates ceramide upstream of acid ceramidase in the lysosomes. Using our acid ceramidase deficiency model, we tested if acid sphingomyelinase could be a potential novel therapeutic target for the treatment of Farber disease. A number of functional acid sphingomyelinase inhibitors are clinically available and have been used for decades to treat major depression. Using these as a therapeutic for Farber disease, thus, has the potential to improve central nervous symptoms of the disease as well, something all other treatment options for Farber disease can’t achieve so far. As a proof-of-concept study, we first cross-bred acid ceramidase deficient mice with acid sphingomyelinase deficient mice in order to prevent ceramide accumulation. Double-deficient mice had reduced ceramide accumulation, fewer disease manifestations, and prolonged survival. We next targeted acid sphingomyelinase pharmacologically, to test if these findings would translate to a setting with clinical applicability. Surprisingly, the treatment of acid ceramidase deficient mice with the acid sphingomyelinase inhibitor amitriptyline was toxic to acid ceramidase deficient mice and killed them within a few days of treatment. In conclusion, our study provides the first proof-of-concept that acid sphingomyelinase could be a potential new therapeutic target for Farber disease to reduce disease manifestations and prolong survival. However, we also identified previously unknown toxicity of the functional acid sphingomyelinase inhibitor amitriptyline in the context of Farber disease, strongly cautioning against the use of this substance class for Farber disease patients.

C26-ceramide is a new and sensitive biomarker for Farber disease

2017 ◽  
Vol 120 (1-2) ◽  
pp. S38
Author(s):  
Claudia Cozma ◽  
Marius Iurascu ◽  
Susanne Zielke ◽  
Jan Lukas ◽  
Sabrina Eichler ◽  
...  
Keyword(s):  
Farber Disease

scholarly journals Farber disease: understanding a fatal childhood disorder and dissecting ceramide biology

2013 ◽  
Vol 5 (6) ◽  
pp. 799-801 ◽  
Author(s):  
Mark S. Sands
Keyword(s):  
Farber Disease ◽  
Disease Understanding ◽  
Childhood Disorder

Morbidity and mortality associated with Farber disease and prospects for therapy

2017 ◽  
Vol 5 (9) ◽  
pp. 717-726 ◽  
Author(s):  
Edward H. Schuchman ◽  
John Mitchell ◽  
Alex Solyom
Keyword(s):  
Morbidity And Mortality ◽  
Farber Disease

Pharmacokinetics and tissue distribution of RVT-801, a recombinant human acid ceramidase, at efficacious doses in a murine model of Farber disease

2018 ◽  
Vol 123 (2) ◽  
pp. S50
Author(s):  
Eric Gaukel ◽  
Christine Coquery ◽  
Brante Sampey ◽  
Edward Schuchman ◽  
Stephen A. Wring
Keyword(s):  
Tissue Distribution ◽  
Murine Model ◽  
Acid Ceramidase ◽  
Farber Disease ◽  
Human Acid
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