Pharmacology and Clinical Drug Candidates in Redox Medicine

V. Thao-Vi Dao, Ana I. Casas, Ghassan J. Maghzal, Tamara Seredenina, Nina Kaludercic, Natalia Robledinos-Anton, Fabio Di Lisa, Roland Stocker, Pietro Ghezzi, Vincent Jaquet, Antonio Cuadrado and Harald H.H.W. Schmidt; Antioxid Redox Signal. 2015 November 10; 23(14): 1113–1129. doi: 10.1089/ars.2015.6430

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Other lines of research have focused on targeting NRF2 in degenerative diseases where low-grade chronic inflammation is present. One very potent synthetic triterpenoid, CDDO-methyl ester, bardoxolone methyl, has been studied in great detail for treatment of diabetic nephropathy. The initial excitement about this compound was set back by a small yet significant increase in the risk of heart failure. Importantly though, this effect appears not to be related to NRF2 targeting, but rather to alteration of endothelin signaling, leading to reduction in urine volume and sodium excretion in some patients with advanced chronic kidney disease. Bardoxolone methyl is now being studied in new indications for pulmonary arterial hypertension, melanoma, and Friedreich's ataxia.

Regulating biobanking with children’s tissue: a legal analysis and the experts’ view

Elcke J Kranendonk, M Corrette Ploem and Raoul C M Hennekam; European Journal of Human Genetics (2016) 24, 30–36; doi:10.1038/ejhg.2015.59; published online 15 April 2015

The results of this analysis show that experts have no clear consensus about the appropriate rules for storage of and research with children’s material in biobanks. Development of a framework that provides a fair balance between fundamental paediatric research and privacy protection is necessary.

Antioxidants in Translational Medicine.

Harald H.H.W. Schmidt, Roland Stocker, Claudia Vollbracht, Gøran Paulsen, Dennis Riley, Andreas Daiber and Antonio Cuadrado; Antioxid Redox Signal. 2015 November 10; 23(14): 1130–1143.
doi: 10.1089/ars.2015.6393

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Friedreich Ataxia (Chapter 13)

Mary Kay Koenig, Chapter 13 - In Mitochondrial Case Studies, edited by Russell P. SanetoSumit ParikhBruce H. Cohen, Academic Press, Boston, 2016, Pages 103-112, ISBN 9780128008775, doi:10.1016/B978-0-12-800877-5.00013-9.

Diagnostic considerations, clinical presentation, pathophysiology, and treatment options are discussed.

Analyzing the Effects of a G137V Mutation in the FXN Gene

Nathalie Faggianelli, Rita Puglisi, Liana Veneziano, Silvia Romano, Marina Frontali, Tommaso Vannocci, Silvia Fortuni, Roberto Testi and Annalisa Pastore, Front. Mol. Neurosci., 25 November 2015 | doi:10.3389/fnmol.2015.00066

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This study analyze the effects of a point mutation G137V

IFN-γ for Friedreich ataxia: present evidence.

McKenzie Wells, Lauren Seyer, Kimberly Schadt & David R Lynch; Neurodegenerative Disease Management, Posted online on December 4, 2015, doi:10.2217/nmt.15.52

Systematic review and clinical recommendations for dosage of supported home-based standing programs for adults with stroke, spinal cord injury and other neurological conditions

Ginny Paleg and Roslyn Livingstone. BMC Musculoskelet Disord. 2015; 16: 358. Published online 2015 Nov 17. doi: 10.1186/s12891-015-0813-x

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GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients.

Christian Marcotulli, Silvia Fortuni, Gaetano Arcuri, Barbara Tomassini, Luca Leonardi, Francesco Pierelli, Roberto Testi, Carlo Casali; Neurological Sciences pp 1-4 First online: 30 November 2015, DOI: 10.1007/s10072-015-2427-3

IFNγ was generally well tolerated, the main adverse event was hyperthermia/fever. Although, increases in frataxin levels could be detected in a minority of patients, these changes were not significant.
Frataxin levels was mesured in peripheral blood multinuclear cells, this are a cell compartment easily accessible but not involved in the disease, In opinion of the researchers it's questionable if it's a real mirror of what happens in sensory neurons, additional and better biomarkers are needed.

Dr Evans–Galea, a leader in the field of gene therapy, talks about the challenges she has faced, but also the increasing visibility of female scientists in her field, and her professional mission: finding a cure for Friedrich ataxia

www.theguardian.com, interview by Brigid Delaney, Tuesday 1 December

The FXN gene was first discovered in the 90s, and there are potential treatments in development. Since then, it has become like a puzzle I couldn’t put down.

La phase de double appui : paramètre prédictif de la dégradation de la marche dans l’ataxie de Friedreich ?

B. Roche, R. Martin, I. Husson, Neurophysiologie Clinique/Clinical Neurophysiology, Volume 45, Issues 4–5, November 2015, Pages 403-404, ISSN 0987-7053, doi: 10.1016/j.neucli.2015.10.040

Alors que l’ICARS n’a pas saisi de dégradation significative, le tapis de marche GAITRite a révélé quant à lui une détérioration significative du double appui, paramètre représentatif, quand il augmente, d’une instabilité à la marche.