Reata Enrolls First Patient in the MOXIe Study, a Phase 2/3 Study Examining RTA 408 in Friedreich's Ataxia Patients

Reata Enrolls First Patient in the MOXIe Study, a Phase 2/3 Study Examining RTA 408 in Friedreich's Ataxia Patients. SOURCE: Reata Pharmaceuticals, Inc., January 29

IRVING, TX--(Marketwired - January 29, 2015) - Reata announces enrollment of the first patient in a Phase 2 dose-ranging study examining the safety, tolerability, and efficacy of RTA 408 Oral Capsules versus placebo for the treatment of patients with Friedreich's ataxia.

Project: Elucidating the molecular basis of gene silencing by an ORC-HP1 interaction and their contribution to human health disorders

Project: Elucidating the molecular basis of gene silencing by an ORC-HP1 interaction and their contribution to human health disorders. Principal Investigator: Christian Speck, Imperial College London, Department Name: Institute of Clinical Sciences. Funded Period: sep 14 - ago 17

We will analyse the effect of ORC-HP1 interactions for its normal role in cells and in the context of the epigenetic disease, Friedreich's Ataxia, to understand the functional relevance of the complex.

Neurodegenerative Diseases and Therapeutic Strategies using Iron chelators

Neurodegenerative Diseases and Therapeutic Strategies using Iron chelators. Roberta J. Ward, David T. Dexter, Robert R. Crichton, Journal of Trace Elements in Medicine and Biology, Available online 22 January 2015, ISSN 0946-672X, http://dx.doi.org/10.1016/j.jtemb.2014.12.012.

Preliminary results from trials of iron chelation therapy in these neurodegenerative diseases is reviewed.

Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich’s Ataxia

Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich’s Ataxia. Rodrigo Villaseñor, Loren Miraglia, Angelica Romero, Buu Tu, Tanel Punga, Philip Knuckles, Stephan Duss, Tony Orth, and Marc Bühler; J Biomol Screen 1087057114568071, first published on January 23, 2015 as doi:10.1177/1087057114568071


Rational design of small-molecule inhibitors of the identified frataxin repressors and/or high-throughput screening of large siRNA or compound libraries with our system may yield treatments for Friedreich’s ataxia.

Cerebellar transcriptional alterations with Purkinje cell dysfunction and loss in mice lacking PGC-1α

Cerebellar transcriptional alterations with Purkinje cell dysfunction and loss in mice lacking PGC-1α. Lucas EK, Reid CS, McMeekin LJ, Dougherty SE, Floyd CL, Cowell RM. Front Cell Neurosci. 2015 Jan 6;8:441. doi: 10.3389/fncel.2014.00441. eCollection 2014.

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Recently, PGC-1α was also found to be involved in the pathology of Friedreich Ataxia. Friedreich Ataxia is an autosomal recessive disorder and is the most common of the early-onset hereditary ataxias. Friedreich Ataxia is caused by an expanded GAA triplet repeat in the first intron of the frataxin gene, resulting in a 65–95% reduction in frataxin expression in Friedreich Ataxia patients . Transcript expression of PGC-1α and its downstream target MnSOD was found to be decreased in fibroblasts and lymphoblasts of patients with Friedreich Ataxia. In fact, transcript expression of frataxin is highly correlated with that of PGC-1α in Friedreich Ataxia and control cells, and knock down of frataxin in cell culture also decreases transcript expression of PGC-1α.

Current Experience in Testing Mitochondrial Nutrients in Disorders Featuring Oxidative Stress and Mitochondrial Dysfunction: Rational Design of Chemoprevention Trials

Current Experience in Testing Mitochondrial Nutrients in Disorders Featuring Oxidative Stress and Mitochondrial Dysfunction: Rational Design of Chemoprevention Trials. Giovanni Pagano, Annarita Aiello Talamanca, Giuseppe Castello, Mario D. Cordero, Marco d'Ischia, Maria Nicola Gadaleta, Federico V. Pallardó, Sandra Petrović, Luca Tiano and Adriana Zatterale; Int. J. Mol. Sci. 2014, 15(11), 20169-20208; doi:10.3390/ijms151120169

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Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols.

Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols. Aubérie Parent, Xavier Elduque, David Cornu, Laura Belot, Jean-Pierre Le Caer, Anna Grandas, Michel B. Toledano, Benoit D’Autréaux; Nature Communications 6, doi:10.1038/ncomms6686, Published 19 January 2015

These data raise important questions on the physiological mechanism of Fe-S cluster assembly and point to a unique function of ​frataxin as an enhancer of sulfur transfer within the ​NFS1–​ISD11–​ISCU complex.

The cerebellum and sleep

The cerebellum and sleep. DelRosso LM, Hoque R; Neurologic clinics 32:4 2014 Nov pg 893-900 doi:10.1016/j.ncl.2014.07.003

The cerebellum has an important role in sleep. Certain sleep disorders have demonstrated decreased activity in the cerebellum, and sleep complaints are common in patients with cerebellar diseases such as spinocerebellar ataxia, Friedreich ataxia, Joubert syndrome, and ataxia-telangiectasia.

"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors.

"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors. Lowe GC, Corben LA, Duncan RE, Yoon G, Delatycki MB, J Genet Couns. 2015 Jan 17. [Epub ahead of print]

The dilemma of how to manage the desires of some individuals and families affected by FRDA to access testing, when there is a lack of professional consensus

Évolution des paramètres spatio-temporels de la marche dans l’ataxie de Friedreich. Étude sur une population de 31 jeunes marchants,

Évolution des paramètres spatio-temporels de la marche dans l’ataxie de Friedreich. Étude sur une population de 31 jeunes marchants. Bastien Roche, Isabelle Husson, Rodolphe Martin, Kinésithérapie, la Revue, Volume 15, Issue 158, February 2015, Pages 35-36, ISSN 1779-0123, http://dx.doi.org/10.1016/j.kine.2014.11.041.

Avec 1500 personnes touchées en France, l’ataxie de Friedreich est l’ataxie héréditaire à transmission autosomique récessive la plus courante.