IFN-γ for Friedreich ataxia: present evidence.

McKenzie Wells, Lauren Seyer, Kimberly Schadt & David R Lynch; Neurodegenerative Disease Management, Posted online on December 4, 2015, doi:10.2217/nmt.15.52

Systematic review and clinical recommendations for dosage of supported home-based standing programs for adults with stroke, spinal cord injury and other neurological conditions

Ginny Paleg and Roslyn Livingstone. BMC Musculoskelet Disord. 2015; 16: 358. Published online 2015 Nov 17. doi: 10.1186/s12891-015-0813-x

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GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients.

Christian Marcotulli, Silvia Fortuni, Gaetano Arcuri, Barbara Tomassini, Luca Leonardi, Francesco Pierelli, Roberto Testi, Carlo Casali; Neurological Sciences pp 1-4 First online: 30 November 2015, DOI: 10.1007/s10072-015-2427-3

IFNγ was generally well tolerated, the main adverse event was hyperthermia/fever. Although, increases in frataxin levels could be detected in a minority of patients, these changes were not significant.
Frataxin levels was mesured in peripheral blood multinuclear cells, this are a cell compartment easily accessible but not involved in the disease, In opinion of the researchers it's questionable if it's a real mirror of what happens in sensory neurons, additional and better biomarkers are needed.

Dr Evans–Galea, a leader in the field of gene therapy, talks about the challenges she has faced, but also the increasing visibility of female scientists in her field, and her professional mission: finding a cure for Friedrich ataxia

www.theguardian.com, interview by Brigid Delaney, Tuesday 1 December

The FXN gene was first discovered in the 90s, and there are potential treatments in development. Since then, it has become like a puzzle I couldn’t put down.

La phase de double appui : paramètre prédictif de la dégradation de la marche dans l’ataxie de Friedreich ?

B. Roche, R. Martin, I. Husson, Neurophysiologie Clinique/Clinical Neurophysiology, Volume 45, Issues 4–5, November 2015, Pages 403-404, ISSN 0987-7053, doi: 10.1016/j.neucli.2015.10.040

Alors que l’ICARS n’a pas saisi de dégradation significative, le tapis de marche GAITRite a révélé quant à lui une détérioration significative du double appui, paramètre représentatif, quand il augmente, d’une instabilité à la marche.

Gene-editing tool CRISPR opens a world of possibilities for rare genetic diseases

CRISPR gene-editing tool has scientists thrilled — but nervous. By Kelly Crowe, CBC News Posted: Nov 30, 2015 5:00 AM ET

The CRISPR system allows anyone with basic molecular biology training to edit the genome with a pinpoint precision not possible before, in addition CRISPR editing is relatively cheap once established.
Much remains to be done in scientific and legal aspects, would be able to eradicate human gene mutations from all future generations?. There is also a strong ethical concern, it could be used to cure genetic diseases or also for eugenic purposes.

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.