Monday, January 25, 2021

AVXS-401, by Novartis Gene Therapies

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25/01/2021. AVXS-401 is a gene therapy developed by Novartis Gene Therapies (AveXis, now is part of Novartis). It uses the AAV9 adeno-associ...

Novartis Gene Therapies gets FDA Orphan Drug Designation in Friedreich's Ataxia

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01/21/2021. Novartis Gene Therapies gets FDA Orphan Drug Designation in Friedreich's Ataxia, Novartis Gene Therapies announced that the ...
Saturday, January 23, 2021

Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study

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Miram K. Depping, Natalie Uhlenbusch, Yskert von Kodolitsch, Hans F. E. Klose, Victor-Felix Mautner & Bernd Löwe; Orphanet J Rare Dis 16...
Thursday, January 21, 2021

PGC‐1α protects from myocardial ischaemia‐reperfusion injury by regulating mitonuclear communication

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Li, Y‐Q, Jiao, Y, Liu, Y‐N, Fu, J‐Y, Sun, L‐K, Su, J.; J Cell Mol Med. 2021; 00: 1‐ 8. doi:10.1111/jcmm.16236 In this review, we speculate ...
Tuesday, January 19, 2021

Efficacy of echocardiography for differential diagnosis of left ventricular hypertrophy: special focus on speckle-tracking longitudinal strain

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Tanaka, H.; J Echocardiogr (2021). doi:10.1007/s12574-020-00508-3  The underlying mechanisms of myocardial dysfunction in patients with Fri...
Sunday, January 17, 2021

Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia

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Layne N Rodden, Yogesh K Chutake, Kaitlyn Gilliam, Christina Lam, Elisabetta Soragni, Lauren Hauser, Matthew Gilliam, Graham Wiley, Michael ...

Omaveloxolone: potential new agent for Friedreich ataxia

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David R Lynch and Joseph Johnson; Future Medicine, Neurodegenerative Disease Management 0 0:0 Published Online:12 Jan 2021 doi:10.2217/nmt-2...

Dimethyl fumarate dose-dependently increases mitochondrial gene expression and function in muscle and brain of Friedreich’s ataxia model mice

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Chun Kiu Hui, Elena N Dedkova, Claire Montgomery, Gino Cortopassi, Human Molecular Genetics, , ddaa282, doi:10.1093/hmg/ddaa282  We observed...

NAF Supports FARA’s Call to Action

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January 15, 2021; Friedreich’s Ataxia Research Alliance (FARA) is encouraging Reata Pharmaceuticals to submit a New Drug Application (NDA) f...
Monday, January 11, 2021

Jupiter Orphan Therapeutics Announces First Patient Dosed in Phase I Dose Escalation Study of JOTROL™

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JUPITER, Fla., Jan. 11, 2021 /PRNewswire/ -- Jupiter Orphan Therapeutics, Inc. ("JOT") a biotechnology company pioneering a novel ...