Auditory neuropathy

Auditory neuropathy. Arnold Starr, Gary Rance, Handbook of Clinical Neurology, Elsevier, 2015, Volume 129, Pages 495-508, ISSN 0072-9752, ISBN 9780444626301, http://dx.doi.org/10.1016/B978-0-444-62630-1.00028-7.

Septal myectomy for hypertrophic obstructive cardiomyopathy in Friedreich's ataxia.

Septal myectomy for hypertrophic obstructive cardiomyopathy in Friedreich's ataxia. Anderson HN, Burkhart HM, Johnson JN; Cardiol Young. 2015 Feb 17:1-4. [Epub ahead of print] 10.1017/S104795111500013X

Keywords: Friedreich’s ataxia, hypertrophic cardiomyopathy, septal myectomy

This suggests that septal myectomy may be a viable option to relieve symptoms and interrupt progression of heart disease in appropriately selected Friedreich’s ataxia patients.

Very late-onset friedreich ataxia with laryngeal dystonia.

Very late-onset friedreich ataxia with laryngeal dystonia. Rota S. · Marchina E., Todeschini A., Nanetti L., Rinaldi F., Vanotti A., Mariotti C., Padovani A., Filosto MM, Case Rep Neurol 2014;6:287-290 (DOI:10.1159/000370062)

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A novel GAA repeat expansion-based mouse model of Friedreich ataxia.

A novel GAA repeat expansion-based mouse model of Friedreich ataxia. Anjomani Virmouni S, Ezzatizadeh V, Sandi C, Sandi M, Al-Mahdawi S, Chutake Y, Pook MA. Dis Model Mech. 2015 Feb 13. pii: dmm.018952. [Epub ahead of print] doi: 10.1242/dmm.018952

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Navigating through orphan medicinal product regulations in EU and US – Similarities and differences

Navigating through orphan medicinal product regulations in EU and US – Similarities and differences. Jyoti Tiwari, Regulatory Toxicology and Pharmacology, Volume 71, Issue 1, February 2015, Pages 63-67, ISSN 0273-2300, http://dx.doi.org/10.1016/j.yrtph.2014.11.006.

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Ferredoxin, in conjunction with NADPH and Ferredoxin-NADP reductase, transfers electrons to the complex IscS/IscU to promote iron-sulfur cluster assembly

Ferredoxin, in conjunction with NADPH and Ferredoxin-NADP reductase, transfers electrons to the complex IscS/IscU to promote iron-sulfur cluster assembly. Robert Yan, Salvatore Adinolfi, Annalisa Pastore, Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, Available online 14 February 2015, ISSN 1570-9639, http://dx.doi.org/10.1016/j.bbapap.2015.02.002.

Horizon Pharma plc Submits Investigational New Drug Application for ACTIMMUNE® in the Treatment of Friedreich's Ataxia

Horizon Pharma plc Submits Investigational New Drug Application for ACTIMMUNE® in the Treatment of Friedreich's Ataxia
. Marketwired, February 13, 2015

SOURCE: Horizon Pharma plc

Phase 3 Study Expected to Begin in Q2 2015

PIPs in neurological diseases

PIPs in neurological diseases. M.G. Waugh, Biochim. Biophys. Acta (2015), http://dx.doi.org/10.1016/j.bbalip.2015.02.002

There has been an interesting development recently concerning the possible involvement of PIP5K1B in Friedreich's ataxia.

Thérapie génique : 3 millions d’euros pour AAVLife

Thérapie génique : 3 millions d’euros pour AAVLife. Bpifrance 12 février 2015


Gene therapy for FA is blooming, yesterday knew the good news of the major strategic collaboration between Sanofi-Genzyme and Voyager Therapeutics, today it has known the news of a new economic aportacion to AAVLIFE project, which develops a gene therapy with AAV vectors for FA, targeted to the heart


Bpifrance investit, via le Fonds Biothérapies innovantes et Maladies rares, 3 millions d’euros dans la société de thérapie génique AAVLife. Une opération va lui permettre de faire progresser la thérapie génique pour le traitement des cardiomyopathies liées à l’ataxie de Friedreich.

Related news:


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

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

Voyager Therapeutics & Genzyme Announce Major Strategic Collaboration to Develop and Commercialize Novel AAV Gene Therapies for Patients with CNS Disorders

Voyager Therapeutics & Genzyme Announce Major Strategic Collaboration to Develop and Commercialize Novel AAV Gene Therapies for Patients with CNS Disorders. (BUSINESS WIRE) February 11, 2015.

Sanofi embarks on an $845M gene therapy R&D odyssey with Voyager


Up to $845 Million Collaboration to Support Development, Expansion and Commercialization of Voyager’s Novel CNS Product Pipeline


Press Release (PDF): Voyager Therapeutics & Genzyme Announce Major Strategic Collaboration to Develop and Commercialize Novel AAV Gene Therapies for Patients with CNS Disorders.

Long term follow up of cardiomyopathy in Friedreich Ataxia

Long term follow up of cardiomyopathy in Friedreich Ataxia. (25es Journées Européennes de la Société Française de Cardiologie – 14-17 janvier 2015, Paris) Lise Legrand, Françoise Pousset, Sophie Tezenas du Montcel, Marie Lorraine Monin, Alina Tataru, Michel Komajda, Alexandra Durr, Richard Isnard; Archives of Cardiovascular Diseases Supplements, Volume 7, Issue 1, January 2015, Page 27, ISSN 1878-6480, http://dx.doi.org/10.1016/S1878-6480(15)71565-X.

GAA repeats are the best predictors of survival and cardiac events in FRDA patients, but EF and LV mass are also predictors of long term evolution

Mitochondrial iron homeostasis and its dysfunctions in neurodegenerative disorders

Mitochondrial iron homeostasis and its dysfunctions in neurodegenerative disorders. Natalia P. Mena, Pamela J. Urrutia, Fernanda Lourido, Carlos M. Carrasco, Marco T. Núñez, Mitochondrion, Available online 7 February 2015, ISSN 1567-7249, http://dx.doi.org/10.1016/j.mito.2015.02.001.

Keywords: Mitochondrial iron homeostasis; iron-sulfur cluster; heme; reactive oxygen species; neurodegenerative disease

Milestones in Friedreich ataxia: more than a century and still learning

Milestones in Friedreich ataxia: more than a century and still learning. Agessandro Abrahão, José Luiz Pedroso, Pedro Braga-Neto, Edson Bor-Seng-Shu, Patricia de Carvalho Aguiar, Orlando Graziani Povoas Barsottini; Springer Berlin Heidelberg 2015-02-08 DOI 10.1007/s10048-015-0439-z

Keywords: Friedreich ataxia, FRDA, Autosomal recessive ataxia, Frataxin gene, FXN, Coenzyme Q10, Idebenone, Deferiprone, Erythropoietin

Una “ambulancia” para el cerebro

Una “ambulancia” para el cerebro. IRB Barcelona Scientic News

Junto a investigadores clínicos, están preparando terapias para el glioblastoma –el cáncer cerebral más agresivo en adultos-, la Ataxia de Friedreich –una enfermedad neurodegenerativa hereditaria- y próximamente para un tipo de cáncer cerebral infantil.

An “ambulance” for the brain

An “ambulance” for the brain. IRB Barcelona Scientific News

Together with clinical researchers, they are preparing treatments for glioblastoma—the most aggressive brain cancer in adults—, Friedreich’s Ataxia—a hereditary neurodegenerative disease—, and a type of paediatric brain cancer

Applying the Retro-Enantio Approach to Obtain a Peptide Capable of Overcoming the Blood–Brain Barrier

Applying the Retro-Enantio Approach to Obtain a Peptide Capable of Overcoming the Blood–Brain Barrier. Dr. Roger Prades, Benjamí Oller-Salvia, Dr. Susanne M. Schwarzmaier, Dr. Javier Selva, Dr. María Moros, Matilde Balbi, Dr. Valeria Grazú, Dr. Jesus M. de La Fuente, Prof. Gustavo Egea, Prof. Nikolaus Plesnila, Dr. Meritxell Teixidó and Prof. Ernest Giralt; Angewandte Chemie Intl Edition (February 2015) DOI: 10.1002/anie.201411408

"In conclusion, we report a protease-resistant peptide with the capacity to transport cargos of distinct sizes and types across the BBB, one of the most restrictive barriers in the human body.
This potential BBB shuttle brings with it the possibility to fulfil an unmet clinical need, namely the treatment of CNS disorders."

Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function

Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function. Luisa Iommarini, Susana Peralta, Alessandra Torraco, Francisca Diaz, P, Mitochondrion, Available online 29 January 2015, ISSN 1567-7249, http://dx.doi.org/10.1016/j.mito.2015.01.008.


Interestingly, in contrast to what has been observed extensively in clinical studies, the mice did not show any oxidative damage. This difference could be explained because in mice the total deletion of Fxn happens in a certain tissue at a specific time, whereas FRDA is characterized by partial Frataxin deficiency in all cells throughout the lifetime.

Mitochondrial diseases Part III: Therapeutic interventions in mouse models of oxphos deficiencies

Mitochondrial diseases Part III: Therapeutic interventions in mouse models of oxphos deficiencies. Mitochondrion, Available online 29 January 2015, ISSN 1567-7249, http://dx.doi.org/10.1016/j.mito.2015.01.007.

This review summarize and discuss the different therapeutic interventions tested in some mouse models of mitochondrial diseases laying emphasis on the molecular mechanisms of action and their potential applications.

Emerging critical roles of Fe-S clusters in DNA replication and repair

Emerging critical roles of Fe-S clusters in DNA replication and repair. Jill O. Fuss, Chi-Lin Tsai, Justin P. Ishida, John A. Tainer, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 2 February 2015, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2015.01.018.

Cellular Iron Uptake, Trafficking and Metabolism: Key Molecules and Mechanisms and their Roles in Disease

Cellular Iron Uptake, Trafficking and Metabolism: Key Molecules and Mechanisms and their Roles in Disease. D.J.R. Lane, A.M. Merlot, M.L.-H. Huang, D.-H. Bae, P.J. Jansson, S. Sahni, D.S. Kalinowski, D.R. Richardson, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 4 February 2015, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2015.01.021.

Possible roles of frataxin in iron homeostasis under the prespective of the Friedreich's ataxia

Iron Regulatory Protein 1 Sustains Mitochondrial Iron Loading and Function in Frataxin Deficiency

Iron Regulatory Protein 1 Sustains Mitochondrial Iron Loading and Function in Frataxin Deficiency. Alain Martelli, Stéphane Schmucker, Laurence Reutenauer, Jacques R.R. Mathieu, Carole Peyssonnaux, Zoubida Karim, Hervé Puy, Bruno Galy, Matthias W. Hentze, Hélène Puccio, Cell Metabolism, Volume 21, Issue 2, 3 February 2015, Pages 311-322, ISSN 1550-4131, http://dx.doi.org/10.1016/j.cmet.2015.01.010.

The promise and perils of HDAC inhibitors in neurodegeneration

The promise and perils of HDAC inhibitors in neurodegeneration. Alessandro Didonna and
Puneet Opal; Annals of Clinical and Translational Neurology, Volume 2, Issue 1, pages 79–101, January 2015 DOI: 10.1002/acn3.147

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