From Mutation Identification to Therapy: Discovery and Origins of the First Approved Gene Therapy in the Western World

From Mutation Identification to Therapy: Discovery and Origins of the First Approved Gene Therapy in the Western World . John J.P. Kastelein, Colin J.D. Ross, and Michael R. Hayden. Human Gene Therapy. May 2013, 24(5): 472-478. doi:10.1089/hum.2013.063.

We hope soon have one similar paper for Friedreich's ataxia ....

Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial.

Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial. Arpa J, Sanz-Gallego I, Rodríguez-de-Rivera FJ, Domínguez-Melcón FJ, Prefasi D, Oliva-Navarro J, Moreno-Yangüela M.; Acta Neurol Scand. 2013 May 14. doi: 10.1111/ane.12141.

The triple therapy results seem to indicate some uncertain benefit on the neurological and heart functions in the FRDA.

New evidence for therapies in stroke rehabilitation.

New evidence for therapies in stroke rehabilitation. Dobkin BH, Dorsch A.; Curr Atheroscler Rep. 2013 Jun;15(6):331. doi: 10.1007/s11883-013-0331-y.

Recent clinical trials provide evidence for a range of new interventions to manage walking, reach and grasp, aphasia, visual field loss, and hemi-inattention.

Stem Cells from Wildtype and Friedreich’s Ataxia Mice Present Similar Neuroprotective Properties in Dorsal Root Ganglia Cells

Stem Cells from Wildtype and Friedreich’s Ataxia Mice Present Similar Neuroprotective Properties in Dorsal Root Ganglia Cells . Jones J, Estirado A, Redondo C, Martinez S (2013). PLoS ONE 8(5): e62807. doi:10.1371/journal.pone.0062807

OPEN ACCESS

Repligen HDAC inhibitors progress

5/7/13 - REPLIGEN CORP - 10-Q - MANAGEMENT'S DISCUSSION AND ANALYSIS OF FINANCIAL CONDITION AND RESULTS OF OPERATIONS . http://www.pharmacychoice.com

Our third clinical development program was targeted at Friedrich's Ataxia and led by RG2833, a class I histone deacetylase ("HDAC") inhibitor. RG2833 has received Orphan Drug designation from the FDA and European Commission. We initiated a single, ascending dose Phase 1 study of RG2833 in Friedreich's Ataxia patients in Italy in the fourth quarter of 2012 and completed the patient dosing in the quarter ended March 31, 2013. We believe the results of this trial, which we are currently analyzing, may be an important consideration for any third-party that may wish to pursue a development or commercialization agreement with us for RG2833. We expect that any additional development activities that we may pursue in the future will be largely supported by sponsors or collaborators.

Fatigue is frequent and multifactorial in Friedreich's ataxia

Fatigue is frequent and multifactorial in Friedreich's ataxia. Cynthia B. da Silva, Camila F. Chevis, Anelyssa D'Abreu, Iscia Lopes-Cendes, Marcondes C. França Jr.; Parkinsonism & Related Disorders, Available online 7 May 2013. http://dx.doi.org/10.1016/j.parkreldis.2013.04.007

Keywords: Friedreich's ataxia, Depression, Fatigue, Sleep disorders.

Non-Viral Gene Therapy Vectors Carrying Genomic Constructs

Non-Viral Gene Therapy Vectors Carrying Genomic Constructs

George Kotzamanis, Hassan Abdulrazzak, Athanassios Kotsinas and Vassilis G. Gorgoulis (2011). Non-Viral Gene Therapy Vectors Carrying Genomic Constructs, Non-Viral Gene Therapy, Prof. Xubo Yuan (Ed.), ISBN: 978-953-307-538-9, InTech, DOI: 10.5772/19225. Available from: http://www.intechopen.com/books/non-viral-gene-therapy/non-viral-gene-therapy-vectors-carrying-genomic-constructs

Good book to understand a little more the basics of this promising technique

This book focuses on recent advancement of gene delivery systems research. With the multidisciplinary contribution in gene delivery, the book covers several aspects in the gene therapy development: various gene delivery systems, methods to enhance delivery, materials with modification and multifunction for the tumor or tissue targeting. This book will help molecular biologists gain a basic knowledge of gene delivery vehicles, while drug delivery scientist will better understand DNA, molecular biology, and DNA manipulation

Entrevista a Javier Díaz-Nido

Radio interview to Javier Diaz-Nido, Spanish Researcher on Friedreich's Ataxia (Spanish)

Manuel Seara ha hablado sobre ataxia con Javier Díaz-Nido en el programa A hombros de gigantes de RNE, profesor titular de Biología Molecular de la Universidad Autónoma de Madrid y experto en la ataxia de Friedreich.

http://www.rtve.es/alacarta/audios/a-hombros-de-gigantes/hombros-gigantes-entrevista-javier-diaz-nido/1803448/

Bioenergetics Reprogrammed in a Cellular Model of Friedreich's Ataxia: Frataxin Deficiency Affects Formation of Respiratory Supercomplexes and Down-regulates Both OXPHOS and Glycolysis.

Bioenergetics Reprogrammed in a Cellular Model of Friedreich's Ataxia: Frataxin Deficiency Affects Formation of Respiratory Supercomplexes and Down-regulates Both OXPHOS and Glycolysis. Van Houten B, Wang T; Journal of Biomolecular Techniques : JBT [2013, 24(Suppl):S54-S55]

Keywords: Friedreich's ataxia (FRDA), glycolysis, OXPHOS, glucose metabolism, fatty acid oxidation, bioenergetics reprogramming.

Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia

Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia. Christian Clemm von Hohenberg, Michael F. Schocke, Marlene C. Wigand, Wolfgang Nachbauer, Charles RG Guttmann, Marek Kubicki, Martha E. Shenton, Sylvia Boesch, Karl Egger.
Neurological Sciences, May 2013. DOI 10.1007/s10072-013-1402-0

Keywords: Friedreich ataxia, Magnetic resonance imaging, Diffusion-tensor imaging, Tract-based spatial statistics, Cerebellar peduncle, Biomarker.