Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia

Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia. ClinicalTrials.gov (October 17, 2013).

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. Recently, a study reported that interferon gamma (IFN-g) could raise frataxin protein levels in both cell lines derived from patients with Friedreich ataxia and in a mouse model with Friedreich ataxia. The present study will test whether IFN-g is safe, tolerated and potentially efficacious in a heterogeneous cohort of children with FRDA.

Sponsor: Children's Hospital of Philadelphia
Collaborators: Friedreich Ataxia Research Alliance (FARA), Vidara Therapeutics Research Ltd
Information provided by (Responsible Party): Children's Hospital of Philadelphia

Developing epigenetic diagnostics and therapeutics for brain disorders

Developing epigenetic diagnostics and therapeutics for brain disorders. Irfan A. Qureshi, Mark F. Mehler; Trends in Molecular Medicine, Available online 18 October 2013. http://dx.doi.org/10.1016/j.molmed.2013.09.003

Keywords: bromodomain; epigenomic; exosome; glioma; histone deacetylase; long non-coding RNA; microRNA

EPI-743 in Friedreich's Ataxia Point Mutations

EPI-743 in Friedreich's Ataxia Point Mutations.

The purpose of this study is to evaluate the effects of EPI-743 in patients with Friedreich's Ataxia point mutations.

Official Title: A Phase 2A Clinical Trial of EPI-743 (Vincerinone™) on Visual Function in Friedreich's Ataxia Patients With Point Mutations.

Sponsor: University of South Florida
Collaborators: Edison Pharmaceuticals Inc, Friedreich's Ataxia Research Alliance

Sequence Complexity Effects on Speech Production in Healthy Speakers and Speakers with Hypokinetic or Ataxic Dysarthria

Sequence Complexity Effects on Speech Production in Healthy Speakers and Speakers with Hypokinetic or Ataxic Dysarthria.Reilly KJ, Spencer KA, PLoS ONE 8(10): e77450. doi:10.1371/journal.pone.0077450. (2013)

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Friedreich’s ataxia and other hereditary ataxias in Greece: An 18-year perspective

Friedreich’s ataxia and other hereditary ataxias in Greece: An 18-year perspective. Georgios Koutsis, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, Marios Panas; Journal of the Neurological Sciences, Available online 16 October 2013; http://dx.doi.org/10.1016/j.jns.2013.10.012

Keywords: Friedreich’s ataxia; spinocerebellar ataxia; autosomal recessive cerebellar ataxia; autosomal dominant cerebellar ataxia; SCA

Orphan Drug Designations and Approvals

Orphan Drug Designations and Approvals.

Generic Name: dimethyl fumarate
Date Designated: 09-11-2013
Orphan Designation: Treatment of Friedreich's Ataxia
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: Gino Cortopassi

RNA-INDUCED TRANSCRIPTIONAL GENE SILENCING IN FRIEDREICH ATAXIA

RNA-INDUCED TRANSCRIPTIONAL GENE SILENCING IN FRIEDREICH ATAXIA. PROJECT: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

Project Number: 5R01NS072418-04
Project Leader: BIDICHANDANI, SANJAY I
Awardee Organization: UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR

Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models

Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models. J C Komen and D R Thorburn; British Journal of Pharmacology, Accepted manuscript online: 17 SEP 2013 11:12PM EST | DOI: 10.1111/bph.12413

Keywords: mitochondria; oxidative phosphorylation; PGC-1α; mitochondrial biogenesis; bezafibrate; resveratrol; AICAR; mouse models; mitochondrial disease

Exercise Induces Hippocampal BDNF through a PGC-1α/FNDC5 Pathway

Exercise Induces Hippocampal BDNF through a PGC-1α/FNDC5 Pathway. Christiane D. Wrann, James P. White, John Salogiannnis, Dina Laznik-Bogoslavski, Jun Wu, Di Ma, Jiandie D. Lin, Michael E. Greenberg, Bruce M. Spiegelman; Cell Metabolism, Available online 10 October 2013. http://dx.doi.org/10.1016/j.cmet.2013.09.008

This findings link endurance exercise and the important metabolic mediators, PGC-1α and FNDC5, with BDNF expression in the brain.

Methylene blue rescues heart defects in a Drosophila model of Friedreich's ataxia

Methylene blue rescues heart defects in a Drosophila model of Friedreich's ataxia. Hervé Tricoire, Amandine Palandri, Arthur Bourdais, Jean-Michel Camadro and Véronique Monnier. Hum. Mol. Genet. (2013) doi: 10.1093/hmg/ddt493.

KEYWORDS: Friedreich's Ataxia (FRDA), Drosophila, neurons, glial cells, methylene blue (MB), alternative electron carrier.