Access to Orphan Drugs: A Comprehensive Review of Legislations, Regulations and Policies in 35 Countries

Gammie T, Lu CY, Babar ZU-D (2015), PLoS ONE 10(10): e0140002., doi:10.1371/journal.pone.0140002

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Access to orphan drugs depends on individual country’s pricing and reimbursement policies, which varied widely between countries. High prices and insufficient evidence often limit orphan drugs from meeting the traditional health technology assessment criteria, especially cost-effectiveness, which may influence access.
Overall many countries have implemented a combination of legislations, regulations and policies for orphan drugs in the last two decades. While these may enable the availability and access to orphan drugs, there are critical differences between countries in terms of range and types of legislations, regulations and policies implemented.

Alternative mitochondrial electron transfer for the treatment of neurodegenerative diseases and cancers: Methylene blue connects the dots

Shao-Hua Yang, Wenjun Li, Nathalie Sumien, Michael Forster, James W. Simpkins, Ran Liu, Progress in Neurobiology, Available online 18 November 2015, ISSN 0301-0082, doi:10.1016/j.pneurobio.2015.10.005

There is accumulating evidence providing a proof of concept that enhancement of mitochondrial oxidative phosphorylation via alternative mitochondrial electron transfer may offer protective action against neurodegenerative diseases and inhibit cancers proliferation.

Retrotope announces opening of second clinical trial site for enrollment in Friedreich's ataxia clinical trial

LOS ALTOS, Calif., Nov. 20, 2015 /PRNewswire/ -- Retrotope announces the opening of second clinical trial site, the Collaborative Neuroscience Network, LLC. ("CNS") in Long Beach, California, for the ongoing 28-day, first-in-human randomized, double-blind, controlled, ascending dose study of orally dosed RT001 to evaluate the safety, tolerability, pharmacokinetics (PK), disease state, and exploratory endpoints in patients with Friedreich's ataxia (FA).

Frataxin expression in reticulocytes of non-splenectomized and splenectomized patients with HbE-β-thalassaemia

Yollada Suebpeng, Arunee Jetsrisuparb, Supan Fucharoen, Amporn Tripatara, Clinical Biochemistry, Available online 14 November 2015, ISSN 0009-9120, doi: 10.1016/j.clinbiochem.2015.11.008.

The relative FXN expression in the patients was found to be correlated with the levels of MDA and ferritin but not correlated with transferrin saturation. The elevation of FXN expression in the reticulocytes of these patients seems to be linked to oxidative stress and iron status. Findings also suggest that FXN expression is at least partially regulated by the mitochondrial demand for iron for haem synthesis.

Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA,

Yee-Ki Lee, Yee-Man Lau, Kwong-Man Ng, Wing-Hon Lai, Shu-Leong Ho, Hung-Fat Tse, Chung-Wah Siu, Philip Wing-Lok Ho, International Journal of Cardiology, Available online 17 November 2015, ISSN 0167-5273, doi:10.1016/j.ijcard.2015.11.101.

Life without Fe-S clusters

Agostinho G. Rocha and Andrew Dancis, Molecular Microbiology 1365-2958, DOI - 10.1111/mmi.13273

Microcommentary on “Novel features of the ISC machinery revealed by characterization of Escherichia coli mutants that survive without iron-sulfur clusters” by Naoyuki Tanaka, Miaki Kanazawa, Keitaro Tonosaki, Nao Yokoyama, Tomohisa Kuzuyama, Yasuhiro Takahashi.

Développement d'un nouveau modèle cellulaire de l'ataxie de Friedreich : différenciation de cellules pluripotentes induites de patients en cardiomyocytes

Aurore Hick. (Theses) Rhumatologie et système ostéo-articulaire. Université de Strasbourg, 2014. Français.

Frataxin knockdown in Drosophila alters mitochondrial homeostasis and degradation in muscles and glia

Seminars: IGC - Instituto Gulbenkian de Ciência (Portugal), Speaker: Juan Navarro, Affiliation: Institut für Zoologie, Universität Regensburg, Germany, Date 13/11/2015

Normative Data for an Instrumental Assessment of the Upper-Limb Functionality

Marco Caimmi, Eleonora Guanziroli, Matteo Malosio, Nicola Pedrocchi, Federico Vicentini, Lorenzo Molinari Tosatti and Franco Molteni, BioMed Research International Volume 2015 (2015), Article ID 484131, 14 pages doi:10.1155/2015/484131


This work led to the creation of a reliable database of normative data of the Reaching and Hand-to-Mouth Evaluation Method. Its simplicity and brevity make the whole procedure widely applicable to the UL functional assessment.

Structural and Functional Magnetic Resonance Imaging of the Cerebellum: Considerations for Assessing Cerebellar Ataxias

Andreas Deistung , Maria R. Stefanescu, Thomas M. Ernst, Marc Schlamann, Mark E. Ladd, Jürgen R. Reichenbach, Dagmar Timmann, Review: The Cerebellum pp 1-5 First online: 31 October 2015 DOI 10.1007/s12311-015-0738-9

Data from initial fMRI studies are presented in three common forms of hereditary ataxias (Friedreich’s ataxia, spinocerebellar ataxia type 3, and spinocerebellar ataxia type 6).