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

Frataxin accelerates [2Fe-2S] cluster formation on the human Fe-S assembly complex

Frataxin accelerates [2Fe-2S] cluster formation on the human Fe-S assembly complex. Nicholas G. Fox , Deepika Das , Mrinmoy Chakrabarti , Paul Alan Lindahl , and David P. Barondeau, Biochemistry, Just Accepted Manuscript DOI: 10.1021/bi5014497 Publication Date (Web): May 27, 2015

Nuclear-mitochondrial proteins: too much to process

Nuclear-mitochondrial proteins: too much to process. Rita Horvath , Patrick F. Chinnery, Brain First published online: 26 May 2015, DOI: http://dx.doi.org/10.1093/brain/awv072 1451-1453



Trinucleotide repeat expansions and point mutations in FXN, which codes for frataxin, cause the most common form of autosomal recessive ataxia—Friedreich’s ataxia—providing a link between PMPCA and the ataxia affecting the 17 patients described by Jobling et al.

Inhibition of the tyrosine kinase Src might be a new strategy for treating Friedreich ataxia

Inhibition of the tyrosine kinase Src might be a new strategy for treating Friedreich ataxia. Nature Reviews Neurology (2015) Research Highlight-In brief, doi:10.1038/nrneurol.2015.89 Published online 26 May 2015

Original article Cherubini, F. et al. Src inhibitors modulate frataxin protein levels. Hum. Mol. Genet. doi:10.1093/hmg/ddv162

Turning Escherichia coli into a Frataxin-Dependent Organism

Turning Escherichia coli into a Frataxin-Dependent Organism. Roche B, Agrebi R, Huguenot A, Ollagnier de Choudens S, Barras F, Py B (2015), PLoS Genet 11(5): e1005134. doi:10.1371/journal.pgen.1005134

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Trading Places—Switching Frataxin Function by a Single Amino Acid Substitution within the [Fe-S] Cluster Assembly Scaffold

Trading Places—Switching Frataxin Function by a Single Amino Acid Substitution within the [Fe-S] Cluster Assembly Scaffold. Dean DR, Dos Santos PC (2015) PLoS Genet 11(5): e1005192. doi:10.1371/journal.pgen.1005192

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Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism

Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism. Yoon H, Knight SAB, Pandey A, Pain J, Turkarslan S, Pain D, Andrew Dancis. (2015) PLoS Genet 11(5): e1005135. doi:10.1371/journal.pgen.1005135

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Use of MAPK pathway inhibitors for the treatment of Friedreich Ataxia

Use of MAPK pathway inhibitors for the treatment of Friedreich Ataxia . University of Pennsylvania, posted on 05/19/2015

Brief Description: A novel treatment for rare disease Friedreich ataxia using p38 or MK2 kinase inhibitors

A First in Human Study of RT001 in Patients With Friedreich's Ataxia

A First in Human Study of RT001 in Patients With Friedreich's Ataxia.ClinicalTrials.gov Identifier: NCT02445794, Sponsor: Retrotope, Inc.

Study Type: Interventional
Study Design: Allocation: Randomized
Endpoint Classification: Safety Study
Intervention Model: Parallel Assignment
Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor)
Primary Purpose: Treatment

Estimated Enrollment: 18
Study Start Date: July 2015
Estimated Study Completion Date: February 2016
Estimated Primary Completion Date: January 2016 (Final data collection date for primary outcome measure)

The Cardiomyopathy in Friedreich’s Ataxia – New Biomarker for Staging Cardiac Involvement

The Cardiomyopathy in Friedreich’s Ataxia – New Biomarker for Staging Cardiac Involvement. Frank Weidemann, Dan Liu, Kai Hu, Cristiane Florescu, Markus Niemann, Sebastian Herrmann, Bastian Kramer, Stephan Klebe, Kathrin Doppler, Nurcan Üçeyler, Christian Oliver Ritter, Georg Ertl, Stefan Störk, International Journal of Cardiology, Available online 15 May 2015, ISSN 0167-5273, http://dx.doi.org/10.1016/j.ijcard.2015.05.074.

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A biomarker for determining mitochondrial damage in friedreich's ataxia

A biomarker for determining mitochondrial damage in friedreich's ataxia. Patent WO 2013130964, Pub. No.: WO/2013/130964, International Application No.: PCT/US2013/028609, Publication Date: 06.09.2013, International Filing Date: 01.03.2013

Applicants:INDIANA UNIVERSITY RESEARCH & TECHNOLOGY CORPORATION
Inventors: PAYNE, Ronald Mark; (US), WAGNER, Gregory R.; (US), BABBEY, Clifford M.; (US), PRIDE, P. Melanie; (US)

The compositions and methods include determining the acetylation status of mitochondrial proteins

Gene therapy possibilities for certain heart diseases

Gene therapy possibilities for certain heart diseases. Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University. By bioethicsnewsbot | May 13, 2015

Pill of super-protective 'heavy' fat may be key to eternal youth

Pill of super-protective 'heavy' fat may be key to eternal youth. 13 May 2015 by Jessica Hamzelou, New Scientist, Issue 3021

Mikhail Shchepinov, director of Retrotope, a biotech company based in Los Altos, California, wants eventually to slow down the ageing process. But he is starting with a related problem – treating the inherited movement disorder Friedreich's ataxia, with which ageing shares a mechanism.

The trial launching in June is a safety study. The team will be checking that the doses of heavy fat are well tolerated by 18 people with Friedreich's ataxia.

Metabolomics in Precision Medicine

Magazine Preview: Metabolomics in Precision Medicine. Ian Clift, Ph.D.; From May 15 Issue:Genetic Engineering & Biotechnology News

Dr. Blair studies Friedreich’s ataxia, a disease caused by a mutation in the gene frataxin or by a triplet GAA expansion in intron 1 of the gene

Ageing, neuroinflammation and neurodegeneration

Ageing, neuroinflammation and neurodegeneration. Roberta J Ward, David T. Dexter, Robert R. Crichton; Frontiers in Bioscience, Scholar, 7, 189-204, June 1, 2015

Access to new medicines in Europe: technical review of policy initiatives and opportunities for collaboration and research

Access to new medicines in Europe: technical review of policy initiatives and opportunities for collaboration and research. WHO Regional Office for Europe

English (PDF, 3.1 MB)

Oxidative Stress and the Homeodynamics of Iron Metabolism

Oxidative Stress and the Homeodynamics of Iron Metabolism. Nikolaus Bresgen and Peter M. Eck; Biomolecules 2015, 5(2), 808-847; doi:10.3390/biom5020808

Open access

Src inhibitors modulate frataxin protein levels

Src inhibitors modulate frataxin protein levels. Fabio Cherubini, Dario Serio, Ilaria Guccini, Silvia Fortuni, Gaetano Arcuri, Ivano Condò, Alessandra Rufini, Shadman Moiz, Serena Camerini, Marco Crescenzi, Roberto Testi and Florence Malisan; Hum. Mol. Genet. (2015) doi: 10.1093/hmg/ddv162, First published online: May 6, 2015

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act. Konstantin Mechler, William K Mountford, Georg F Hoffmann and Markus Ries; Orphanet Journal of Rare Diseases 2015, 10:46 doi:10.1186/s13023-015-0262-5

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The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development. Emma Heslop, Cristina Csimma, Volker Straub, John McCall, Kanneboyina Nagaraju, Kathryn R Wagner, Didier Caizergues, Rudolf Korinthenberg, Kevin M Flanigan, Petra Kaufmann, Elizabeth McNeil, Jerry Mendell, Sharon Hesterlee, Dominic J Wells and Kate Bushby; Orphanet Journal of Rare Diseases 2015, 10:49 doi:10.1186/s13023-015-0258-1

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Principles for consistent value assessment and sustainable funding of orphan drugs in Europe

Principles for consistent value assessment and sustainable funding of orphan drugs in Europe. Laura Gutierrez, Julien Patris, Adam Hutchings and Warren Cowell; Orphanet Journal of Rare Diseases 2015, 10:53 doi:10.1186/s13023-015-0269-y

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U.S. clinics avoiding government oversight of "stem cell" treatments

Federal Regulatory Oversight of US Clinics Marketing Adipose-Derived Autologous Stem Cell Interventions: Insights From 3 New FDA Draft Guidance Documents. Leigh G. Turner, PhD, Mayo Clinic Proceedings, Volume 90, Issue 5, May 2015, Pages 567–571

Chondrial Therapeutics is pleased to announce several development milestones. Update 05.15

Chondrial Therapeutics is pleased to announce several development milestones. Update 05.15.

May 1, 2015

Chondrial Therapeutics is pleased to announce several development milestones. The company has successfully manufactured its lead commercial drug candidate for Friedreich’s Ataxia. It has also initiated preclinical validation studies and preliminary results are very encouraging. The company plans on pre-IND discussions later this year and conducting GLP Toxicology studies early next year.

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Rebekah K. Jobling , Mirna Assoum , Oleksandr Gakh , Susan Blaser , Julian A. Raiman , Cyril Mignot , Emmanuel Roze , Alexandra Dürr , Alexis Brice , Nicolas Lévy , Chitra Prasad , Tara Paton , Andrew D. Paterson , Nicole M. Roslin , Christian R. Marshall , Jean-Pierre Desvignes , Nathalie Roëckel-Trevisiol , Stephen W. Scherer , Guy A. Rouleau , André Mégarbané , Grazia Isaya , Valérie Delague , Grace Yoon; Brain. 2015 Mar 25. pii: awv057. [Epub ahead of print] DOI: http://dx.doi.org/10.1093/brain/awv057

In particular, this mutation impacts the maturation process of frataxin, the protein which is depleted in Friedreich ataxia.

The hidden side of unstable DNA repeats: Mutagenesis at a distance

The hidden side of unstable DNA repeats: Mutagenesis at a distance. Kartik A. Shah, Sergei M. Mirkin, DNA Repair, Available online 1 May 2015, ISSN 1568-7864, http://dx.doi.org/10.1016/j.dnarep.2015.04.020.

The Repeat Expansion Diseases: the dark side of DNA repair?

The Repeat Expansion Diseases: the dark side of DNA repair?, DNA Repair. Xiao-Nan Zhao, Karen Usdin, Available online 30 April 2015, ISSN 1568-7864, http://dx.doi.org/10.1016/j.dnarep.2015.04.019.