Patients are the new patrons

Patients are the new patrons. IRB Barcelona in the media, 25 February 2014.

The Innovadores supplement of today’s El Mundo reports on the funding that Ernest Giralt’s group has received from Genefa, the association of patients with Friedreich's ataxia, to study this rare disease. The report explains how patients and scientists have come together to undertake a new scientific project.

Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)

Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). ClinicalTrials.gov Identifier: NCT02069509

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years

Oral-Diadochokinesis Rates across Languages: English and Hebrew Norms

Oral-Diadochokinesis Rates across Languages: English and Hebrew Norms. Michal Icht, Boaz M. Ben-David; Journal of Communication Disorders, Available online 23 February 2014. http://dx.doi.org/10.1016/j.jcomdis.2014.02.002

Oral-Diadochokinesis has been used to evaluate the presence and severity of neurological impairments. Inaccurate, inconsistent or an abnormal oral-DDK performance might indicate disorders of the central nervous system or peripheral sensory motor functions.

Spinocerebellar ataxia, Parkinson’s disease and Friedreich’s ataxia (both presenting orofacial motor impairments,were characterized with reduced Oral-Diadochokinesis scores.

Generation and Characterisation of Friedreich Ataxia YG8R Mouse Fibroblast and Neural Stem Cell Models

Generation and Characterisation of Friedreich Ataxia YG8R Mouse Fibroblast and Neural Stem Cell Models . Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A. Pook; PLoS ONE 9(2): e89488. doi:10.1371/journal.pone.0089488

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Genomic Instability in Pluripotent Stem Cells: Implications for Clinical Applications

Genomic Instability in Pluripotent Stem Cells: Implications for Clinical Applications. Suzanne E. Peterson and Jeanne F. Loring; The Journal of Biological Chemistry, 289, 4578-4584. 10.1074/jbc.R113.516419 February 21, 2014

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There are several examples of dramatic genomic changes that appear when cells are reprogrammed. Studies of some trinucleotide repeat diseases have reported changes in the repeat length following reprogramming. Specifically, in Friedreich ataxia, the GAA/TTC triplet repeat length in the FXN (frataxin) gene appeared to change following reprogramming of patient fibroblasts

Although the probability of an FDA-approved hPSC-derived cell therapy causing harm to a patient appears to be low, the consequences of adverse events are enormous. There is an important lesson from the failures in early gene therapy trials. If even one patient is harmed in an FDA-approved trial using hPSC derivatives, all further trials will be in serious jeopardy, and the promise of stem cell therapy will be put on indefinite hold.

The Neuroprotective Role of Acupuncture and Activation of the BDNF Signaling Pathway

The Neuroprotective Role of Acupuncture and Activation of the BDNF Signaling Pathway. Lin, Dong; De La Pena, Ike; Lin, Lili; Zhou, Shu-Feng; Borlongan, Cesar V.; Cao, Chuanhai; International Journal of Molecular Sciences. 2014; 15(2):3234-3252.

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Global Identification of Genes Affecting Iron-Sulfur Cluster Biogenesis and Iron Homeostasis

Global Identification of Genes Affecting Iron-Sulfur Cluster Biogenesis and Iron Homeostasis . Ryota Hidese, Hisaaki Mihara, Tatsuo Kurihara and Nobuyoshi Esaki; J. Bacteriol. March 2014 vol. 196 no. 6 1238-1249; Published ahead of print 10 January 2014, doi: 10.1128/JB.01160-13

Drosophila models for studying iron-related neurodegenerative diseases.

Drosophila models for studying iron-related neurodegenerative diseases. Zhu ZJ, Wu KC, Qian ZM, Yung WH, Ke Y.; Acta Physiologica Sinica, February 25, 2014, 66(1): 47–54; DOI: 10.13294/j.aps.2014.0007 http://www.actaps.com.cn

4.1 FRDA Drosophila models


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Poster: BDNF function in health and disease

Poster: BDNF function in health and disease

This poster is freely available thanks to support from EVER Neuro Pharma.

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Characterization of biometal - profiles in neurological disorders

Characterization of biometal - profiles in neurological disorders. Stefanie Pfaender and Andreas M Grabrucker; Metallomics, 2014,
DOI: 10.1039/C4MT00008K

Accelerating development, registration and access to medicines for rare diseases in the European Union through adaptive approaches: features and perspectives

Accelerating development, registration and access to medicines for rare diseases in the European Union through adaptive approaches: features and perspectives. David Uguen, Thomas Lönngren, Yann Le Cam, Sarah Garner, Emmanuelle Voisin, Carlo Incerti, Marc Dunoyer and Moncef Slaoui; Orphanet Journal of Rare Diseases 2014, 9:20 doi:10.1186/1750-1172-9-20

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Nucleoside 5’-phosphorothioate derivatives are highly effective neuroprotectants

Nucleoside 5’-phosphorothioate derivatives are highly effective neuroprotectants. O. Danino, N. Giladi,S. Grossman, B. Fischer; Biochemical Pharmacology. Available online 15 February 2014. http://dx.doi.org/10.1016/j.bcp.2014.02.001

Voyager Lifts Off With $45M From Third Rock Ventures

Voyager Lifts Off With $45M From Third Rock Ventures. By Paul Bonanos, The pink Sheet, February 12 2014

Voyager hopes to have three programs in the clinic by early 2017, targeting Parkinson’s, ALS and Friedreich’s ataxia.

Voyager Therapeutics, a new gene therapy company focused on CNS diseases, including Friedreich's Ataxia (FA), is launched

Voyager Therapeutics, a new gene therapy company focused on CNS diseases, including Friedreich's Ataxia (FA), is launched. FARA Press Release, February 12, 2014

Downingtown, PA- February 12, 2014- FARA is pleased to recognize today's launch of Voyager Therapeutics and its commitment to developing gene therapies for central nervous system disorders, including FA. Voyager is backed by leading life sciences investor Third Rock Ventures, and the company has assembled leaders in adeno-associated virus (AAV) gene therapy to develop life-changing treatments with the goal of dramatically improving patients’ lives. See press release from Voyager Therapeutics: http://www.voyagertherapeutics.com/pdfs/Voyager_02.11.14.pdf

Using the Wii Fit as a tool for balance assessment and neurorehabilitation: the first half decade of "Wii-search"

Using the Wii Fit as a tool for balance assessment and neurorehabilitation: the first half decade of "Wii-search". Daniel J Goble, Brian L Cone and Brett W Fling; Journal of NeuroEngineering and Rehabilitation 2014, 11:12 doi:10.1186/1743-0003-11-12
Published: 8 February 2014

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Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia

Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia. Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Francesco Sacca, Alessandro Filla, Thomas Klockgether, Thomas Klopstock, Ludger Schöls, Heike Jacobi, Boriana Büchner, Jennifer Müller vom Hagen, Lorenzo Nanetti and Karen Manicom. Movement Disorders, Article first published online: 11 FEB 2014 | DOI: 10.1002/mds.25836

CEPO was safe and well tolerated in a 2-week treatment phase. Secondary outcome measures remained without apparent difference between CEPO and placebo

Program and Abstracts for the SIMD Annual Meeting

Program and Abstracts for the SIMD Annual Meeting. Society for Inherited Metabolic Disorders 37th Annual Meeting; Saturday, March 9–March 12, 2014, Asilomar Conference Center, Pacific Grove, CA

65) NEWBORN SCREENING FOR LYSOSOMAL STORAGE DISORDERS, FRIEDREICH ATAXIA,WILSON DISEASE AND X-ADRENOLEUKODYSTROPHY. A COMPARATIVE EFFECTIVENESS STUDY.
Matern D, Raymond K, Isaya G, Tortorelli S, Gavrilov D, Hopwood J, Lorey F, Rinaldo P, Oglesbee D.

By October 2013, all 100,000 samples had undergone 1st and 2nd tier testing. Molecular genetic confirmation of presumptive positive cases is ongoing and will allow complete assessment of each assay's performance by February 2014.


66) THE (SURPRISING) PREVALENCE OF 12 LYSOSOMAL STORAGE DISORDERS, FRIEDREICH ATAXIA, WILSON DISEASE AND X-ADRENOLEUKODYSTROPHY IN CALIFORNIA
Dietrich Matern, Silvia Tortorelli, Dimitar Gavrilov, Kimiyo Raymond, Hao Tang, Fred Lorey, Piero Rinaldo, Devin Oglesbee.

Abnormal results were encountered by the primary screen, but 2nd tier testing and/or molecular genetic testing did not confirm a true positive case. Not a single false positive for Friedreich Ataxia was encountered; in fact, the 2nd tier test for frataxin was always normal while testing of known affected patients yielded abnormal results.

The Friedreich's Ataxia Research Alliance Announces That the FDA has Granted Orphan Drug Status for Research of Untreatable Rare Disease, Friedreich's Ataxia

The Friedreich's Ataxia Research Alliance Announces That the FDA has Granted Orphan Drug Status for Research of Untreatable Rare Disease, Friedreich's Ataxia

"This is an important step forward in moving EPI-743 towards approval for the treatment of Friedreich's ataxia."

Downingtown, PA (PRWEB) February 04, 2014: Edison Pharmaceuticals today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug status to vatiquinone (EPI-743) for the treatment of Friedreich’s ataxia




FDA Grants Edison Pharmaceuticals' EPI-743 Orphan Status for Friedreich's Ataxia.

MOUNTAIN VIEW, Calif., Feb. 4, 2014 /PRNewswire/

Fellowship: NMR screening to select compounds that interact with human frataxin

NMR screening to select compounds that interact with human frataxin.

Job details; type Fellowship, Università degli Studi di Roma Tor Vergata, Italy. Expires: February 06, 2014

Graduate student seminar: “Frataxin Stimulates Fe/S Cluster Biosynthesis.”

“Frataxin Stimulates Fe/S Cluster Biosynthesis.”

February 13 @ 12:45 pm - 1:45 pm

Yu Wang will present her PhD research seminar entitled, “Frataxin Stimulates Fe/S Cluster Biosynthesis.”

Sex differences in mitochondrial biogenesis determine neuronal death and survival in response to oxygen glucose deprivation and reoxygenation

Sex differences in mitochondrial biogenesis determine neuronal death and survival in response to oxygen glucose deprivation and reoxygenation; Jaswinder Sharma, Michael V Johnston and Mir Ahamed Hossain; BMC Neuroscience 2014, 15:9 doi:10.1186/1471-2202-15-9

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Spongionella Secondary Metabolites Protect Mitochondrial Function in Cortical Neurons against Oxidative Stress

Spongionella Secondary Metabolites Protect Mitochondrial Function in Cortical Neurons against Oxidative Stress.Leirós M, Sánchez JA, Alonso E, Rateb ME, Houssen WE, Ebel R, Jaspars M, Alfonso A, Botana LM.; Mar Drugs. 2014 Jan 27;12(2):700-18. doi: 10.3390/md12020700.

Oxidative stress is linked to mitochondrial dysfunction and consequently to neurodegenerative disorders like Parkinson and Alzheimer diseases, Friedreich ataxia or Amyotrophic lateral sclerosis. This neuroprotection against oxidation conditions suggest that these metabolites could be interesting lead candidates in drug development for neurodegenerative diseases.

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Mitochondrial ferritin in the regulation of brain iron homeostasis and neurodegenerative diseases

Mitochondrial ferritin in the regulation of brain iron homeostasis and neurodegenerative diseases. Gao G and Chang Y (2014).Front. Pharmacol. 5:19. doi: 10.3389/fphar.2014.00019

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Stem cells therapy for regenerative medicine: Principles of present and future practice

Stem cells therapy for regenerative medicine: Principles of present and future practice. Andrades, J. , Becerra, J. , Muñoz-Chápuli, R. , Martínez, S. , Raya, Á. , García-Sancho, J. and Moraleda, J. (2014); Journal of Biomedical Science and Engineering, 7, 49-57. doi: 10.4236/jbise.2014.72008.

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The use of stem cells as a therapeutic tool for a number of ischemic, inflam-matory, autoimmune, metabolic and degenerative dis-eases represents one of the more promising areas of bio-medical research; however, after more than 15 years of an exponential increase in basic knowledge, the promise to translate all those findings to clinical practice has not been achieved. There is only one cell therapy product that has obtained market authorization in the EU, and despite several hundred of phase I-II clinical trials there is almost a complete lack of robust efficacy data from phase III trials.

Salvador Martinez’s group (University of Alicante) has analyze the effect that bone marrow and adipose mesenchymal stem cells (MSCs) grafts exert in a chronic demyelination and Friedrich ataxia mice models. As a result, oligodendrocyte progenitors were detected sur- rounding the graft in experimental demyelinating brain models, as well as increasing of dorsal root ganglia cells survival in vitro Friedrich ataxia cellular and animal models. This potential therapeutic effect was due to a selective production of trophic factors by the MSCs.