Assembly Factors of Human Mitochondrial Respiratory Chain Complexes: Physiology and Pathophysiology

Assembly Factors of Human Mitochondrial Respiratory Chain Complexes: Physiology and Pathophysiology. Daniele Ghezzi, Massimo Zeviani; Mitochondrial Oxidative Phosphorylation, Advances in Experimental Medicine and Biology Volume 748, 2012, pp 65-106. DOI:http://dx.doi.org/10.1007/978-1-4614-3573-0_4

Keywords: Mitochondrial disorders, oxidative phosphorylation (OXPHOS) system, mitochondrial respiratory chain (MRC), mitochondrial DNA, nuclear genes, Complex I, Complex II, Complex III, Complex IV, Complex V, Fe–S Cluster Biosynthesis, Respiratory Chain Supercomplexes.

Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia

Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia.

The purpose of this study is to examine the effects of EPI-743 on visual function and neurologic function in patients with Friedreich's ataxia.

Sponsor:

Edison Pharmaceuticals Inc 

ClinicalTrials.gov Identifier:  NCT01728064

First received: November 13, 2012

 

 

Condition	Intervention	Phase
Friedreich's Ataxia	Drug: Placebo Drug: EPI-743 400 mg Drug: EPI-743 200 mg	Phase 2

EPI-743 Phase 2B Friedreich Ataxia clinical trial to be initiated

EPI-743 Phase 2B Friedreich Ataxia clinical trial to be initiated. Friedreich’s Ataxia Research Alliance (FARA) Press release. Downingtown, PA, November 15, 2012.

“We are tremendously excited about the encouraging results Edison Pharma’s team has obtained with EPI-743 in mitochondrial disease, and about the promising prospects for this upcoming multicenter Friedreich’s ataxia phase 2B study. We strongly encourage all Friedreich’s ataxia patients interested in participating to take the steps above to prepare for this important trial,” said FARA President Ron Bartek.

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

OPEN ACCESS

FULL TEXT PDF

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).

FULL TEXT PDF

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.