Adaptive Clinical Trials in Orphan Drug Development

Adaptive Clinical Trials in Orphan Drug Development. Authored by James Sheppard. Liftstream Life Science Newsletter

The benefit to companies and patients in the rare disease space is clear. Adaptive trials offer the possibility to help reduce not only the financial burden but the time constraints too.

Video game–based coordinative training improves ataxia in children with degenerative ataxia

Video game–based coordinative training improves ataxia in children with degenerative ataxia. Winfried Ilg, PhD, Cornelia Schatton, Julia Schicks, MD, Martin A. Giese, PhD, Ludger Schöls, MD and Matthis Synofzik, MD; Neurology November 13, 2012 vol. 79 no. 20 2056-2060, doi: 10.1212/WNL.0b013e3182749e67


This study provides Class III evidence that directed training with Xbox Kinect video games can improve several signs of ataxia in adolescents with progressive ataxia ....

Edison Pharmaceuticals Announces Initiation of EPI-743 Phase 2B Leigh Syndrome Clinical Trial

Edison Pharmaceuticals Announces Initiation of EPI-743 Phase 2B Leigh Syndrome Clinical Trial. Edison Press Release, November 13, 2012, Rev. FINAL

Role of DNA Polymerases in Repeat-Mediated Genome Instability.

Role of DNA Polymerases in Repeat-Mediated Genome Instability. Shah KA, Shishkin AA, Voineagu I, Pavlov YI, Shcherbakova PV, Mirkin SM.; Cell Rep. 2012 Nov 7. doi: 10.1016/j.celrep.2012.10.006

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Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich’s Ataxia?

Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich’s Ataxia?. Dr. IMMA CASTALDO, Dr. Paola Vergara, Dr. Michele Pinelli, Prof. Alessandro Filla, Prof. Giuseppe De Michele, Prof. Sergio Cocozza, and Dr. Antonella Monticelli; Antioxidants & Redox Signaling. null, Vol. 0, No. ja

Keywords: oxidative stress, inflammation, telomere erosion, Friedreich's ataxia, frataxin expression, inflammatory genes, neuronal death, telomere shortening, biomarker.

Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia.

Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia. Hick A, Wattenhofer-Donzé M, Chintawar S, Tropel P, Simard JP, Vaucamps N, Gall D, Lambot L, André C, Reutenauer L, Rai M, Teletin M, Messaddeq N, Schiffmann SN, Viville S, Pearson CE, Pandolfo M, Puccio HM. Dis Model Mech. 2012 Nov 7.

Keywords: Friedreich's ataxia (FRDA), neurodegenerative disorder, hypertrophic cardiomyopathy, frataxin level, cellular models, induced pluripotent stem cells (iPSCs).

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Synthesis of TAT peptide-tagged PEGylated chitosan nanoparticles for siRNA delivery targeting neurodegenerative diseases

Synthesis of TAT peptide-tagged PEGylated chitosan nanoparticles for siRNA delivery targeting neurodegenerative diseases. Meenakshi Malhotra, Catherine Tomaro-Duchesneau, Satya Prakash. Biomaterials, Available online 7 November 2012. DOI: http://dx.doi.org/10.1016/j.biomaterials.2012.10.013.

Keywords: Chitosan, PEG, TAT, siRNA, Nanoparticles, Gene delivery, Neurodegenerative diseases.

Gene therapy: Glybera approved by European Commission

European Commission approves uniQure’s gene therapy, Glybera

The European CommissionA has given Glybera marketing authorisation in Europe for the first time, this treatment corrects errors in a person's genetic code

It's an important step that opens the door to this type of treatment in many genetically based Diseases. The race to reach gene therapy to patients has begun!!!!

European Commission Public health

Cells Lacking Pfh1, a Fission Yeast Homolog of Mammalian Frataxin, Display Constitutive Activation of the Iron Starvation Response

Cells Lacking Pfh1, a Fission Yeast Homolog of Mammalian Frataxin, Display Constitutive Activation of the Iron Starvation Response. Natalia Gabrielli, José Ayté and Elena Hidalgo. JBC, Journal of Bological Chemistry, First Published on October 31, 2012, doi: 10.1074/jbc.M112.421735 jbc.M112.421735.

Keywords: Friedreich ataxia, frataxin, iron homeostasis, oxidative stress, Fep1, Php4, Grx4, S. pombe

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Effects of the glucagon-like polypeptide-1 analogue (Val8)GLP-1 on learning, progenitor cell proliferation and neurogenesis in the C57B/16 mouse brain

Effects of the glucagon-like polypeptide-1 analogue (Val8)GLP-1 on learning, progenitor cell proliferation and neurogenesis in the C57B/16 mouse brain. Stephen F.J. McGovern, Kerry Hunter, Christian Hölscher, Brain Research, Volume 1473, 14 September 2012, Pages 204-213. http://dx.doi.org/10.1016/j.brainres.2012.07.029.

Keywords: Insulin, Incretin, Neurodegenerative disease, Alzheimer's disease, Cognition, Diabetes, Neurogenesis.

The results demonstrate that (Val8)GLP-1 is safe in a range of doses, crosses the BBB and has potentially beneficial effects in the CNS by enhancing neurogenesis.


Fármaco antidiabético contra las enfermedades neurodegenerativas