Clinical Neurogenetics : Friedreich Ataxia

Clinical Neurogenetics : Friedreich Ataxia. Abigail Collins; Neurologic Clinics, Volume 31, Issue 4, November 2013, Pages 1095-1120. http://dx.doi.org/10.1016/j.ncl.2013.05.002

Modelling biochemical features of mitochondrial neuropathology

Modelling biochemical features of mitochondrial neuropathology ; Matthew J. Bird, David R. Thorburn, Ann E. Frazier; Biochimica et Biophysica Acta (BBA) - General Subjects, Available online 23 October 2013. http://dx.doi.org/10.1016/j.bbagen.2013.10.017

Keywords: Neuropathology; mitochondrial disease; mouse models; cybrids; iPS; OXPHOS; membrane potential; Ca2 +; reactive oxygen species; mitochondrial morphology; frataxin

The Nervous System Cytoskeleton under Oxidative Stress

The Nervous System Cytoskeleton under Oxidative Stress. Gardiner, J.; Overall, R.; Marc, J.; Diseases 2013, 1, 36-50.

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Fixing Frataxin: “Ironing Out” the Metabolic Defect in Friedreich's Ataxia

Fixing Frataxin: “Ironing Out” the Metabolic Defect in Friedreich's Ataxia. A. Anzovino, D. J. R. Lane, M. L.-H. Huang, D. R. Richardson, British Journal of Pharmacology, Accepted manuscript online: 21 OCT 2013, DOI: 10.1111/bph.12470

Keywords: Frataxin; Mitochondrial Iron Accumulation; Oxidative Stress; Autophagy; Cardio- and Neuro-Degeneration; Friedriech's Ataxia

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