New treatments for mitochondrial disease—no time to drop our standards

New treatments for mitochondrial disease—no time to drop our standards. Gerald Pfeffer, Rita Horvath, Thomas Klopstock, Vamsi K. Mootha, Anu Suomalainen, Saskia Koene, Michio Hirano, Massimo Zeviani, Laurence A. Bindoff, Patrick Yu-Wai-Man, Michael Hanna, Valerio Carelli, Robert McFarland, Kari Majamaa, Douglas M. Turnbull, Jan Smeitink & Patrick F. Chinnery; Nature Reviews Neurology, 2013/07/02 advance online publication, doi:10.1038/nrneurol.2013.129

Ataxie de Friedreich, La recherche progresse

Ataxie de Friedreich, La recherche progresse . Journal de Chambly, Par Alex Bernard, Mardi 2 juillet 2013 16:20:02 HAE

«Je suis très optimiste qu’on puisse développer des traitements pour l’ataxie de Friedreich. J’espère pouvoir aller en essai clinique d’ici 2 à 3 ans», exprime Dr Tremblay.

Gene Therapy Cures a Severe Pediatric Neurodegenerative Disease in Animal Models

Gene Therapy Cures a Severe Pediatric Neurodegenerative Disease in Animal Models. Universitat Autònoma de Barcelona (2013, July 2). ScienceDaily. Retrieved July 3, 2013, from http://www.sciencedaily.com­ /releases/2013/07/130702100344.htm

July 2, 2013 — A single session of a gene therapy developed by the Universitat Autònoma de Barcelona (UAB) cures Sanfilippo Syndrome A in animal models. This syndrome is a neurodegenerative disease that affects between 1 and 9 out of every 100,000 children, and causes the death of the child on reaching adolescence.


Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy. Virginia Haurigot, Sara Marcó, Albert Ribera, Miguel Garcia, Albert Ruzo, Pilar Villacampa, Eduard Ayuso, Sònia Añor, Anna Andaluz, Mercedes Pineda, Gemma García-Fructuoso, Maria Molas, Luca Maggioni, Sergio Muñoz, Sandra Motas, Jesús Ruberte, Federico Mingozzi, Martí Pumarola, Fatima Bosch
J Clin Invest. 2013; doi:10.1172/JCI66778

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Regulation of fatty acid metabolism by mTOR in adult murine hearts occurs independently of changes in PGC-1α

Regulation of fatty acid metabolism by mTOR in adult murine hearts occurs independently of changes in PGC-1α. Yi Zhu, Jamie Soto, Brandon Anderson, Christian Riehle, Yi Cheng Zhang, Adam R Wende, Deborah Jones, Donald A. McClain, and E. Dale Abel, Am J Physiol Heart Circ Physiol ajpheart.00877.2012; published ahead of print April 26, 2013, doi: 10.​1152/​ajpheart.​00877.​2012

In conclusion, mTOR regulates mitochondrial fatty acid utilization but not glucose utilization in the heart via mechanisms that are independent of changes in PGC expression.

Review on Molecular Diagnostic Techniques in Friedreich’s Ataxia

Review on Molecular Diagnostic Techniques in Friedreich’s Ataxia Pravin D. Potdar and Aarthy Raghu; Annual Review & Research in Biology, ISSN: 2231-4776,Vol.: 3, Issue.: 4 (October-December)

Keywords: Friedreich’s ataxia; frataxin; GAA repeats; molecular diagnostics; triplet-repeat primed PCR; real time PCR.

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Multi-Copper Oxidases and Human Iron Metabolism

Multi-Copper Oxidases and Human Iron Metabolism. Vashchenko, G.; MacGillivray, R.T.A.; Nutrients 2013, 5, 2289-2313.

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Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.Matern D, Oglesbee D, Tortorelli S.; Dev Disabil Res Rev. 2013 Jun;17(3):247-253. doi: 10.1002/ddrr.1117.

Keywords: Newborn screening (NBS), public health program, 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, Friedreich ataxia.

Final Study Record Detail: Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia

Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia. www.clinicaltrials.gov, A service of the U.S. National Institutes of Health.

Study Design:
Allocation: Randomized; Endpoint Classification: Efficacy Study; Intervention Model: Parallel Assignment; Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor); Primary Purpose: Supportive Care

Due to small sample size and considering there are no specific studies in this population with EGb761; calculation with the use of a statistical hypothesis was not possible. Primary efficacy analyses performed on the mITT population and analysis of safety performed on the safety population.

Modelling the endothelial blood-CNS barriers: a method for the production of robust in vitro models of the rat blood--brain barrier and blood-spinal cord barrier

Modelling the endothelial blood-CNS barriers: a method for the production of robust in vitro models of the rat blood--brain barrier and blood-spinal cord barrier. P Marc Watson, Judy C Paterson, George Thom, Ulrika Ginman, Stefan Lundquist and Carl I Webster, BMC Neuroscience 2013, 14:59 doi:10.1186/1471-2202-14-59 Published: 18 June 2013

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"Interesting in vitro model to test if drugs can reach neurons, in Friedreich's ataxia it's a major handicap reach the neurons to improve the neurological symptoms"

Osteopenia and osteoporosis in Friedreich's ataxia

Osteopenia and osteoporosis in Friedreich's ataxia. Nachbauer, W., Eigentler, A., Gasser, R., Poewe, W., Boesch, S.; Movement Disorders 2013;28 Suppl 1 :698

Keywords: osteoporosis, osteopenia, Friedreich ataxia (FRDA), demographic, clinical values, increased risk of fractures, osteodensitometry, wheelchair-bound patients.