Horizon Pharma begins phase 3 trial of Actimmune to treat Friedreich's Ataxia

Horizon Pharma begins phase 3 trial of Actimmune to treat Friedreich's Ataxia. Pharmabiz.com; Dublin, Ireland
Monday, June 08, 2015

Horizon Pharma plc, a biopharmaceutical company, has initiated the phase 3 Safety, Tolerability and Efficacy of Actimmune Dose Escalation in Friedreich's Ataxia study (STEADFAST) of Actimmune (interferon gamma-1b) for the treatment of people with Friedreich's Ataxia (FA), a degenerative neuro-muscular disorder.

A new cellular model to follow Friedreich's ataxia development in a time-resolved way

A new cellular model to follow Friedreich's ataxia development in a time-resolved way. Vannocci T, Faggianelli N, Zaccagnino S, Rosa ID, Adinolfi S, Pastore A; Disease Models & Mechanisms, Advance Online Articles, Posted 23 April 2015 doi: 10.1242/dmm.020545

Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich’s Ataxia, SUPPLEMENTARY INFORMATION

SUPPLEMENTARY INFORMATION: Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich’s Ataxia. Yanjie Li, Urszula Polak, Angela D Bhalla, Natalia Rozwadowska, Jill Sergesketter Butler, David R Lynch, Sharon Y R Dent and Marek Napierala

Supplementary Information (pdf 6,731K)

ORIGINAL ARTICLE: Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich’s ataxia. Li Y, Polak U, Bhalla A, Rozwadowska N, Butler JS, Lynch D, Dent SY, Napierala M; Mol Ther. 2015 Mar 11. doi: 10.1038/mt.2015.41.

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, Volume 21, March 2015, Pages 92-105, ISSN 1567-7249, http://dx.doi.org/10.1016/j.mito.2015.02.001.

Conference: 2nd Rare Disease Collaboration

Conference: 2nd Rare Disease Collaboration: 15th July 2015 at 08:00 - 16th July 2015 at 17:00 (GMT-04:00) Atlantic Time (Canada) Nature Events Directory.

Speakers: Gail Adinamis, Globalcare Clinical Trials, LTD, Rino Aldrighetti, Pulmonary Hypertension Association, Ronald Bartek, Friedreich's Ataxia Research Alliance (FARA), Diane Berry, Sarepta Therapeutics,

The role of mitochondria and the cytosolic iron-sulfur protein assembly machinery in the maturation of cytosolic and nuclear iron-sulfur proteins

The role of mitochondria and the cytosolic iron-sulfur protein assembly machinery in the maturation of cytosolic and nuclear iron-sulfur proteins. Roland Lill, Rafal Dutkiewicz, Sven Freibert, Torsten Heidenreich, Judita Mascarenhas, Daili Netz, Victoria D. Paul, Antonio J. Pierik, Nadine Richter, Martin Stümpfig, Vasundara Srinivasan, Oliver Stehling, Ulrich Mühlenhoff, European Journal of Cell Biology, Available online 31 May 2015, ISSN 0171-9335, http://dx.doi.org/10.1016/j.ejcb.2015.05.002.

Facilitating the development of gene therapies

Facilitating the development of gene therapies. The European Medicines Agency (EMA). 20/05/2015


EMA invites feedback on its new draft guideline


Draft guideline on the quality, non-clinical and clinical aspects of gene therapy medicinal products

Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms

Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms. S. Pérez-Luz, A. Gimenez-Cassina, I. Fernández-Frías, R. Wade-Martins, J. Díaz-Nido, Genomics, Available online 28 May 2015, ISSN 0888-7543, http://dx.doi.org/10.1016/j.ygeno.2015.05.006.

Cerebellar damage impairs the self-rating of regret feeling in a gambling task

Cerebellar damage impairs the self-rating of regret feeling in a gambling task. Clausi S, Coricelli G, Pisotta I, Pavone EF, Lauriola M, Molinari M and Leggio M (2015); Front. Behav. Neurosci. 9:113. doi: 10.3389/fnbeh.2015.00113

Seminar: Dr. Javier Díaz-Nido, Friedreich's Ataxia as model for neurodegenerative diseases: From molecular biology to the quest for therapies

Seminar: Dr. Javier Díaz-Nido, Friedreich's Ataxia as model for neurodegenerative diseases: From molecular biology to the quest for therapies. 2015-06-0414:00 Petrén lecture hall, Nobels väg 12b (Solna).Campus Solna