The State of Gene Therapies: The FDA Perspective

The State of Gene Therapies: The FDA Perspective, Molecular Therapy (2012); 20 5, 877–878. doi:10.1038/mt.2012.51, Daniel Takefman and Wilson Bryan Full Text.

Keywords: Clinical development of gene therapy, 320 ongoing gene therapy clinical trials, Office of Cellular Tissue and Gene Therapies (OCTGT), Center for Biologics Evaluation and Research of the US Food and Drug Administration (FDA), treatments for specific, well-defined genetic disorders ... Full Text.

Human adipose stem cell-conditioned medium increases survival of Friedreich’s ataxia cells submitted to oxidative stress

Human adipose stem cell-conditioned medium increases survival of Friedreich’s ataxia cells submitted to oxidative stress . Dr. Jonathan Jones, Mrs. Alicia Estirado, Dr. Carolina Redondo, Dr. Carlos Bueno, and Salvador Martinez. Stem Cells and Development. doi:10.1089/scd.2012.0029.

Keywords: Friedreich’s ataxia, progressive gait, ataxia, cardiomyopathy, in vitro, adult stem cells, periodontal ligament cells, oxidative stress, adipose stem cell-conditioned medium, trophic factors, BDNF (brain-derived neurotrophic factor.

Decreased functional brain activation in Friedreich ataxia using the Simon effect task.

Decreased functional brain activation in Friedreich ataxia using the Simon effect task.Brain Cogn. 2012 Apr 27;79(3):200-208. [Epub ahead of print], Georgiou-Karistianis N, Akhlaghi H, Corben LA, Delatycki MB, Storey E, Bradshaw JL, Egan GF.

Keyword: Simon effect task, functional brain reorganization, Friedreich ataxia (FRDA), magnetic resonance imaging (fMRI).

Accelerating progress in iPS cell research for neurological diseases

Accelerating progress in iPS cell research for neurological diseases. Daisuke Ito, Hideyuki Okano and Norihiro Suzuki, Annals of Neurology, Accepted manuscript online: 29 MAR 2012 06:18AM EST | DOI: 10.1002/ana.23596 Keywords: induced pluripotent stem cells (iPSCs), pluripotency, embryonic stem cells (ESCs, personalized replacement therapy, elucidate the pathological processes, neurodegenerative diseases, drug discovery, regenerative medicine.

Scoliosis in patients with Friedreich's ataxia.

Scoliosis in patients with Friedreich's ataxia., J Bone Joint Surg Br. 2012 May;94(5):684-9. Tsirikos AI, Smith G. Scottish National Spine Deformity Centre, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 1LF, UK. doi: 10.1302/0301-620X.94B5.28391 Keywords: Friedreich's ataxia, scoliosis, thoracic curvatures, thoracolumbar, double thoracic/lumbar, pelvic obliquity, hyperkyphosis.

DESIGN OF HYPOXIA STRATEGY AS A TREATMENT OF FRIEDREICH’S ATAXIA

DESIGN OF HYPOXIA STRATEGY AS A TREATMENT OF FRIEDREICH’S ATAXIA, Unpublished paper, José Luis García Giménez, Abstract "Premi Científico-Tècnic Ciutat d’Algemessí.", 2012


Friedreich’s ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness, speech problems to heart disease. There is currently no effective treatment for Friedreich’s ataxia. However, many of the symptoms accompanying complications can be treated to help patients maintain optimal functioning as long as possible. There are possible treatments for the different symptoms. For example, diuretic and antiarrhythmic drugs to treat the cardiomyophaty can be used.
Drugs such as recombinant human erythropoietin (rHuEPO) have shown the capability to increase frataxin levels in primary fibroblasts cell cultures derived from Friedreich’s ataxia patients (Acquaviva F. et al. 2008). Clinical pilot trials using rHuEPO in FRDA patients indicate that frataxin levels increase, while indicators of oxidative stress decreased significantly (Boeschs S., et al. 2008). But the use of rHuEPO could have various contraindications depending on the nature of each individual. Specially, rHuEPO is a prohibitively expensive treatment, restrictive for FRDA patients and very expensive for public administrations.
We propose a novel method set in the hypoxia as a "non-invasive" and “easy to use” treatment for Friedreich's ataxia. This protocol should cover different fronts of the disease. It may stimulate the expression of endogenous erythropoietin and consequently the expression of frataxin, the molecular cause of the FRDA.
Therefore, hypoxia is presented as a therapeutic tool that can improve the physiopathological features of the disease because it can stimulate the expression of endogenous EPO, a glycoprotein hormone that it has shown beneficial effects in Friedreich’s ataxia.

Coming into view: Eukaryotic iron chaperones and intracellular iron delivery.

Coming into view: Eukaryotic iron chaperones and intracellular iron delivery. Caroline C. Philpott. April 20, 2012 The Journal of Biological Chemistry, 287, 13518-13523. doi: 10.1074/jbc.R111.326876

Keywords: Iron Metabolism, Iron-Sulfur Protein, Metalloenzymes, Metalloproteins, Protein-Metal Ion Interaction, Frataxin, Glutaredoxin, Iron Chaperone, Poly(rC)-binding Protein.

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Antioxidants and other pharmacological treatments for Friedreich ataxia.

Antioxidants and other pharmacological treatments for Friedreich ataxia. Kearney M, Orrell RW, Fahey M, Pandolfo M. Cochrane Database of Systematic Reviews 2012, Issue 4. Art. No.: CD007791. DOI: 10.1002/14651858.CD007791.pub3.

Keywords: Friedreich ataxia, efficacy of antioxidants, pharmacological treatments, idebenone treatment, compared to placebo.

Structural and Functional Studies of the Mitochondrial Cysteine Desulfurase from Arabidopsis thaliana.

Structural and Functional Studies of the Mitochondrial Cysteine Desulfurase from Arabidopsis thaliana. Valeria R. Turowski, Maria V. Busi, and Diego F. Gomez-Casati. Mol. Plant first published online April 17, 2012 doi:10.1093/mp/sss037

Keywords: AtNfs1, Arabidopsis thaliana, bacterial cysteine desulfurases, NifS, IscS, Fe–S cluster assembly, IscS, Arabidopsis frataxin (AtFH), plant mitochondria.

Movement disorders: Interferon-γ shows promise in a mouse model of Friedreich ataxia

Movement disorders: Interferon-γ shows promise in a mouse model of Friedreich ataxia. Tomassini et al., Nature Reviews Neurology , | doi:10.1038/nrneurol.2012.74