Systematic review of available evidence on 11 high-priced inpatient orphan drugs

Systematic review of available evidence on 11 high-priced inpatient orphan drugs. Tim A Kanters, Caroline de Sonneville-Koedoot, W Ken Redekop and Leona Hakkaart. Orphanet Journal of Rare Diseases 2013, 8:124 doi:10.1186/1750-1172-8-124.

Full text pdf

STRUCTURAL INSIGHTS INTO THE FUNCTION OF FRATAXIN

STRUCTURAL INSIGHTS INTO THE FUNCTION OF FRATAXIN . Project Information: STEMMLER, TIMOTHY LOUIS, WAYNE STATE UNIVERSITY,

An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia

An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia. ClinicalTrials.gov.

The purpose of this study is to learn how treatment with acetyl-L-carnitine (ALCAR) will affect the hearts of patients with Friedrich's Ataxia as well as how it may affect other symptoms of Friedrich's Ataxia such as difficulties with balance, walking, or upper arm function.

University of South Florida, Information provided by (Responsible Party): Theresa Zesiewicz, University of South Florida

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds. Michele M.P. Lufino, Ana M. Silva2, Andrea H. Németh, Javier Alegre-Abarrategui, Angela J. Russell and Richard Wade-Martins. Hum. Mol. Genet. (2013), doi: 10.1093/hmg/ddt370

keywords: Friedreich's ataxia (FRDA), frataxin gene (FXN), cell models, GAA-expanded FXN genomic DNA reporter model, BAC vectors, luciferase.

Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length

Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length. Wolfgang Nachbauer, Thomas Bodner, Sylvia Boesch, Elfriede Karner, Andreas Eigentler, Lisa Neier, Thomas Benke, Margarete Delazer. The Cerebellum August 2013, DOI 10.1007/s12311-013-0513-8

Keywords: Friedreich ataxia (FRDA), specific cognitive impairment, GAA repeat size, age of onset, disease duration, executive functions, attention, memory, visual perception.

A little better than placebo is still better than nothing

A little better than placebo is still better than nothing. Adrian S Dobs. Nature Medicine 19, 962 (2013), doi:10.1038/nm0813-962
Published online 06 August 2013

While we wait for a cure, often we are faced with this situation, and we have great difficulty accessing these "light" drugs, but should exist more "specialists" with these ethical principles.

Doctors often dismiss drugs as ineffective if they fail to outperform dummy pills in randomized trials. That's a mistake. When active medicines have few side effects and produce a strong placebo effect, such drugs, even if they prove just slightly better than placebo, should be embraced for the relief they can bring to patients who have few safe alternatives.

Vitamin E: A Dark Horse at the Crossroad of Cancer Management

Vitamin E: A Dark Horse at the Crossroad of Cancer Management. Eduardo Cardenas, Rita Ghosh; Biochemical Pharmacology, Available online 3 August 2013

Although the paper is focused on the cancer, makes a good review of current knowledge about vitamin E, check all its isoforms, metabolism, absorption, transporters, antioxidant potency, etc..

When evaluating the efficacy of vitamin E prophylactic or therapeutic use in previous and future studies, it is critical to consider dosage to be administered, form of vitamin E and source (such as whether from synthetic or purified from natural sources).

The Role of Mitochondria in Cellular Iron–Sulfur Protein Biogenesis: Mechanisms, Connected Processes, and Diseases

The Role of Mitochondria in Cellular Iron–Sulfur Protein Biogenesis: Mechanisms, Connected Processes, and Diseases. Oliver Stehling and Roland Lill.Cold Spring Harb Perspect Biol August 2013;5:a011312

Full text pdf

Frataxin Mutants

Frataxin Mutants. Roberto Testi; Patent US20130196932 A1,1 Ago 2013.

The invention relates to the identification of a mutant frataxin protein and methods of delivering said protein into cells.

His86 from the N-terminus of frataxin coordinates iron and is required for Fe‒S cluster synthesis

His86 from the N-terminus of frataxin coordinates iron and is required for Fe‒S cluster synthesis. Leslie E Gentry , Matthew A Thacker , Reece Doughty , Russell Timkovich , and Laura S. Busenlehner. Biochemistry, Just Accepted Manuscript, DOI: 10.1021/bi400443n. Publication Date (Web): August 2, 2013