Pathophysiogical and therapeutic progress in Friedreich ataxia

Pathophysiogical and therapeutic progress in Friedreich ataxia. H. Puccio, M. Anheim, C. Tranchant, Revue Neurologique, Available online 29 April 2014, ISSN 0035-3787, http://dx.doi.org/10.1016/j.neurol.2014.03.008.

Keywords: Friedreich ataxia; Mitochondria; Frataxine; Physiopathology; Therapeutic; Ataxie de Friedreich; Mitochondries; Frataxine; Physiopathologie; Approches thérapeutiques

REGENX Biosciences Enters Into License Agreement With AAVLife for Development of Treatments for Friedreich's Ataxia Using NAV® Vectors

REGENX Biosciences Enters Into License Agreement With AAVLife for Development of Treatments for Friedreich's Ataxia Using NAV® Vectors .

WASHINGTON, DC and PARIS, FRANCE--(Marketwired - Apr 29, 2014) - REGENX Biosciences, LLC announces that the company has entered into an agreement with AAVLife for the development and commercialization of products to treat Friedreich's ataxia (FA) using NAV technology.

"REGENX has been engaged with the team at AAVLife, including its stakeholders like the Friedreich's Ataxia Research Alliance (FARA), since first becoming aware of their gene therapy research results and during the company's process of formation. We are pleased to formally continue our collaboration with a team who has the leadership, expertise, resources, and commitment to patients that is required in order to develop innovative treatments for patients with FA through the application of NAV technology,"

Anaesthesia for correction of scoliosis in pediatric patient with Friedreich‘s ataxia

Anaesthesia for correction of scoliosis in pediatric patient with Friedreich‘s ataxia. G.L. Agámez Medina, E.J. Pantin, J. Lorthé Jr., P.J. Therrien, Revista Española de Anestesiología y Reanimación, Available online 26 April 2014, ISSN 0034-9356, http://dx.doi.org/10.1016/j.redar.2014.03.001.

Anestesia para corrección de escoliosis en paciente pediátrico con ataxia de Friedreich. Caso clínico

Keywords: Ataxia de Friedreich; Anestesia; Anestesia total intravenosa; Miocardiopatía hipertrófica; Diabetes; Escoliosis; Friedreich's ataxia; Anesthesia; Total intravenous anesthesia; Hypertrophic cardiomyopathy; Diabetes; Scoliosis

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. Emil Ygland, Franco Taroni, Cinzia Gellera, Serena Caldarazzo, Morten Duno, Maria Soller, Andreas Puschmann, Parkinsonism & Related Disorders, Available online 26 April 2014, ISSN 1353-8020, http://dx.doi.org/10.1016/j.parkreldis.2014.04.018.

Keywords: Friedreich Ataxia; Point Mutation; Disease Progression; Hemochromatosis; Genetic Counseling

Cross-sectional analysis of glucose metabolism in Friedreich Ataxia

Cross-sectional analysis of glucose metabolism in Friedreich Ataxia. Nathaniel R. Greeley, Sean Regner, Steve Willi, David R. Lynch, Journal of the Neurological Sciences, Available online 24 April 2014, ISSN 0022-510X, http://dx.doi.org/10.1016/j.jns.2014.04.015.

Keywords: Metabolism; diabetes; mitochondria; triplet repeat

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism. Bolinches-Amorós A, Mollá B, Pla-Martín D, Palau F and Gonzalez-Cabo P; Front. Cell. Neurosci. 8:124. doi: 10.3389/fncel.2014.00124

Keywords: Friedreich Ataxia, frataxin, Mitochondrial dysfunction, cellular senescence, Autophagy, calcium metabolism, ER-stress

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Cell and gene therapy for Friedreich ataxia - progress to date.

Cell and gene therapy for Friedreich ataxia - progress to date. Evans-Galea MV, Pebay A, Dottori M, Corben LA, Ong SH, Lockhart PJ, Delatycki MB.; Hum Gene Ther. 2014 Apr 21.

Epigenetic Therapy for Friedreich’s Ataxia: A Phase I Clinical Trial

Epigenetic Therapy for Friedreich’s Ataxia: A Phase I Clinical Trial. David Jacoby, James Rusche, Marco Iudicello, Stefania De Mercanti, Marinella Clerico, Marco Gibbin, Filomena Longo, Wenyan Miao, Myriam Rai, Antonio Piga, Massimo Pandolfo, and Luca Durelli; April 30, 2014 - Plenary - Contemporary Clinical Issues Plenary Session, Neurology April 8, 2014 vol. 82 no. 10 Supplement PL1.003

Chronochemistry in neurodegeneration

Chronochemistry in Neurodegeneration. Annalisa Pastore and Salvatore Adinolfi; Front. Mol. Neurosci., 31 March 2014 | doi: 10.3389/fnmol.2014.00020

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Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement

Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement. Darren R. Hocking, Louise A. Corben, Joanne Fielding, Phillip D. Cremer, Lynette Millist, Owen B. White, Martin B. Delatycki; Brain and Cognition, Volume 87, May 2014, Pages 161-167, ISSN 0278-2626, http://dx.doi.org/10.1016/j.bandc.2014.03.018.

Keywords: Inherited ataxias; Cognition; Attention; Saccades; Cerebellum

Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism

Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism. Èlia Obis, Verónica Irazusta, Daniel Sanchís, Joaquim Ros, Jordi Tamarit; Free Radical Biology and Medicine, Available online 18 April 2014, ISSN 0891-5849, http://dx.doi.org/10.1016/j.freeradbiomed.2014.04.016.

Keywords: Friedreich ataxia; Mitochondria; Iron; Lipid metabolism; Oxidative stress

Altered Nucleosome Positioning at the Transcription Start Site and Deficient Transcriptional Initiation in Friedreich Ataxia.

Altered Nucleosome Positioning at the Transcription Start Site and Deficient Transcriptional Initiation in Friedreich Ataxia. Chutake YK et al J Biol Chem. 2014 Apr 15.

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AAVLife Raises $12 Million in Series A Financing to Advance Gene Therapy for Friedreich’s Ataxia

AAVLife Raises $12 Million in Series A Financing to Advance Gene Therapy for Friedreich’s Ataxia. April 15, 2014

PARIS--(BUSINESS WIRE)--AAVLife, a gene-therapy company focusing on rare diseases, today announced that it has raised $12 million in Series A financing to advance into clinical studies the promising work on Friedreich’s ataxia recently reported in Nature Medicine.

Phonological markers of sentence stress in ataxic dysarthria and their relationship to perceptual cues

Phonological markers of sentence stress in ataxic dysarthria and their relationship to perceptual cues.Anja Lowit, Anja Kuschmann, Kimberley Kavanagh,Journal of Communication Disorders, Available online 12 April 2014, ISSN 0021-9924, http://dx.doi.org/10.1016/j.jcomdis.2014.03.002.

Keywords: Ataxic dysarthria; Stress; Intonation; Phonology; Phonetics

Application of a Scale for the Assessment and Rating of Ataxia (SARA) in Friedreich's ataxia patients according to posturography is limited

Application of a Scale for the Assessment and Rating of Ataxia (SARA) in Friedreich's ataxia patients according to posturography is limited. J. Schwabova, T. Maly, J. Laczo, A. Zumrova, V. Komarek, Z. Musova, F. Zahalka, Journal of the Neurological Sciences, Available online 12 April 2014, ISSN 0022-510X, http://dx.doi.org/10.1016/j.jns.2014.04.001.

Keywords: Friedreich´s ataxia; Autosomal dominant spinocerebellar ataxia; SARA; FARS; clinical rating scale; posturography

The Use of a Trained Dog as a Gait Aid for Clients with Ataxia: A Case Report

The Use of a Trained Dog as a Gait Aid for Clients with Ataxia: A Case Report. Gabriela Abbud, Caroline Janelle, Maria Vocos, Physiotherapy Canada, Volume 66, Number 1 / 2014, 33-35, DOI 10.3138/ptc.2013-17.

Keywords: animal assisted therapy, assistive device, ataxia, gait

Acute colonic pseudo-obstruction after hysterectomy in a patient with Friedreich ataxia

Acute colonic pseudo-obstruction after hysterectomy in a patient with Friedreich ataxia. Cenk Yasa, Ozlem Dural, Funda Gungor Ugurlucan, Ercan Bastu, Omer Demir, Samet Topuz; Archives of Gynecology and Obstetrics, May 2014, Volume 289, Issue 5, pp 1151-1153

ROLE OF MITOCHONDRIA IN NEURODEGENERATION OF PERIPHERAL NEUROPATHIES.

ROLE OF MITOCHONDRIA IN NEURODEGENERATION OF PERIPHERAL NEUROPATHIES.

Speaker: Aránzazu Bolinches
Date: 11/04/2014 - 13h
Place: Salón de Actos CIPF

AAVLife is a gene therapy company focused on developing treatments for rare diseases with great unmet medical need.

AAVLife is a gene therapy company focused on developing treatments for rare diseases with great unmet medical need.

AAVLife's lead indication is for Friedreich’s Ataxia Cardiomyopathy

The goal is to commence a clinical trial in 2015 to evaluate gene therapy for heart disease associated with Friedreich’s Ataxia. An observational study will be initiated in 2014 as a run-up to treating patients in a Phase I/II study.

Friedreich's Ataxia -- An Effective Gene Therapy In An Animal Model

Friedreich's Ataxia -- An Effective Gene Therapy In An Animal Model. Science 2.0, By News Staff | April 6th 2014

The transfer, via a viral vector, of a normal copy of the gene deficient in patients, allowed to fully and very rapidly cure the heart disease in mice.

As the central nervous system is also a target of AAV vectors, Hélène Puccio and Patrick Aubourg's teams are investigating whether a similar approach using gene therapy could be as effective for the spinal cord and cerebellum as it is for the heart.

AAVLife aimed at advancing gene therapy for cardiomyopathy in Friedreich’s ataxia to clinic

AAVLife aimed at advancing gene therapy for cardiomyopathy in Friedreich’s ataxia to clinic. International collaboration advances gene therapy for Friedreich’s ataxia

DOWNINGTOWN, Pa., April 6, 2014 /PRNewswire-USNewswire/ — The Friedreich’s Ataxia Research Alliance (FARA) is pleased to recognize the ground-breaking gene-therapy research of FARA-funded scientist Dr. Hélène Puccio.

FARA Press Release:
International collaboration advances gene therapy for Friedreich’s ataxia; AAVLife aimed at advancing gene therapy for cardiomyopathy in Friedreich's ataxia to clinic

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia. Morgane Perdomini, Brahim Belbellaa, Laurent Monassier, Laurence Reutenauer, Nadia Messaddeq, Nathalie Cartier, Ronald G Crystal, Patrick Aubourg & Hélène Puccio; Nature Medicine (2014) doi:10.1038/nm.3510

KEYWORDS: Cardiac failure, conditional mouse model, adeno-associated virus rh10 vector, establish the preclinical proof of concept, FRDA cardiomyopathy.

Defining the action spectrum of potential PGC-1α activators on a mitochondrial and cellular level in vivo

Defining the action spectrum of potential PGC-1α activators on a mitochondrial and cellular level in vivo. Annette Hofer, Natalie Noe, Christin Tischner, Nikolay Kladt, Veronika Lellek, Astrid Schauß and Tina Wenz; Hum. Mol. Genet. (2014) 23 (9): 2400-2415. doi: 10.1093/hmg/ddt631

Gene Expression Profiling of Mitochondrial Oxidative Phosphorylation (OXPHOS) Complex I in Friedreich Ataxia (FRDA) Patients

Gene Expression Profiling of Mitochondrial Oxidative Phosphorylation (OXPHOS) Complex I in Friedreich Ataxia (FRDA) Patients . Salehi MH, Kamalidehghan B, Houshmand M, Yong Meng G, Sadeghizadeh M, Omid Aryani, Shahriar Nafissi; PLoS ONE 9(4): e94069. doi:10.1371/journal.pone.0094069

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Friedreich’s Ataxia: From Molecular Biology to the Quest for Therapies

Friedreich’s Ataxia: From Molecular Biology to the Quest for Therapies;

Lecture abstract

Genetics of hereditary neurological disorders in children

Genetics of hereditary neurological disorders in children. Yue Huang, Sui Yu, Zhanhe Wu, Beisha Tang; Translational Pediatrics, Vol 3, No 2 (April 2014); doi: 10.3978/j.issn.2224-4336.2014.03.04

Review Article

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Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis

Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis. Carletti, B.; Piermarini, E.; Tozzi, G.; Travaglini, L.; Torraco, A.; Pastore, A.; Sparaco, M.; Petrillo, S.; Carrozzo, R.; Bertini, E.; Piemonte, F; International Journal of Molecular Sciences. 2014; 15(4):5789-5806.

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A 7 year old girl with hypertrophic cardiomyopathy and progressive scoliosis

A 7 year old girl with hypertrophic cardiomyopathy and progressive scoliosis. Radhika Dhamija, Salman Kirmani; Seminars in Pediatric Neurology, Available online 3 April 2014, ISSN 1071-9091, http://dx.doi.org/10.1016/j.spen.2014.04.003.

Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia.

Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia. Yanhao Lai, Jill M. Beaver, Karla Lorente, Jonathan Melo, Shyama Ramjagsingh, Irina U. Agoulnik, Zunzhen Zhang, Yuan Liu; PLoS One. 2014 Apr 1;9(4):e93464. doi: 10.1371/journal.pone.0093464. eCollection 2014.

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Restoring cognitive functions using non-invasive brain stimulation techniques in patients with cerebellar disorders

Restoring cognitive functions using non-invasive brain stimulation techniques in patients with cerebellar disorders . Pope Paul A, Miall R Chris; Front. Psychiatry, 02 April 2014 | doi: 10.3389/fpsyt.2014.00033

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Friedreich’s Ataxia: FDA Orphan Drug Designations

Friedreich’s Ataxia: FDA Orphan Drug Designations. The Orphan Druganaut Blog, March 25, 2014

Chart which identifies all FDA Orphan Drug Designations (ODDs) for FRDA in ascending date order

The role of frataxin in doxorubicin-mediated cardiac hypertrophy

The role of frataxin in doxorubicin-mediated cardiac hypertrophy . Shravanthi Mouli, Gayani Nanayakkara, Rain Fu, Avery Berlin, Abdul Alasmari, Robert Arnold and Rajesh Amin; The FASEB Journal vol. 28 no. 1 Supplement 648.6, April 2014

Keywords: Heart failure, cancer chemotherapeutic, doxorubicin (DOX), cardiac hypertrophy, Frataxin (FXN)