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FARAFARA Cure FA

 

Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.

 


 

Horizon Pharma plc Announces Topline Results from Phase 3 Study of ACTIMMUNE® (interferon gamma-1b) in Friedreich's Ataxia

Horizon Pharma plc today announced that the Phase 3 trial, STEADFAST (Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia study), evaluating ACTIMMUNE® (interferon gamma-1b) for the treatment of Friedreich's ataxia (FA) did not meet its primary endpoint of a statistically significant change from baseline in the modified Friedreich's Ataxia Rating Scale (FARS‐mNeuro) at 26 weeks versus treatment with placebo. In addition, the secondary endpoints did not meet statistical significance. While these are not the results we hoped for, FARA is grateful to everyone involved in this study for their efforts- the investigators, study coordinators, the patients and families, and Horizon Pharma. FARA will continue to work with Horizon and the principal investigator to continue to analyze the data to help inform future research efforts as well as future data presentation or publication. Additional information can be obtained in the below press release from Horizon.

Of note, subjects participating in the ongoing extension studies should contact their study site coordinator for further information and next steps. Do not discontinue study medication on your own, it will be important to follow a plan related to discontinuation with observation and continue to collect data.

FARA's mission is to drive research to develop therapies that will treat and cure Friedreich's ataxia and we remain passionately committed to that mission so that, one day soon, patients and caregivers impacted by this devastating disease will have effective treatment options.

http://ir.horizon-pharma.com/releasedetail.cfm?ReleaseID=1003338

Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by mutations in Frataxin (FXN). Loss of FXN causes impaired mitochondrial function and iron homeostasis. An elevated production of reactive oxygen species (ROS) was previously proposed to contribute to the pathogenesis of FRDA. We recently showed that loss of frataxin homolog (fh), a Drosophila homolog of FXN, causes a ROS independent neurodegeneration in flies (Chen et al., 2016). In fh mutants, iron accumulation in the nervous system enhances the synthesis of sphingolipids, which in turn activates 3-phosphoinositide dependent protein kinase-1 (Pdk1) and myocyte enhancer factor-2 (Mef2) to trigger neurodegeneration of adult photoreceptors.

Read more HERE

Challenges ahead for trials in Friedreich's ataxia

This paper discusses results reported in The Lancet Neurology, by the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS). EFACTS presented their data from a 2 year natural history study of individuals with Friedreich’s ataxia. The data show the progression of various neurological outcome measures over the course of 2 years. In this paper, the authors explain that EFACTS concluded that their projections suggest that for clinical trials in Friedreich’s ataxia using current measures to demonstrate that a compound is effective, they are likely to need to be carried out over 2 years, and even then will require more than 180 participants. They explain that the US natural history study has shown similar results, which suggests that most trials to date are too short and too small to show the effect of a potential drug. They suggest that future trials should be both longer and larger, or that perhaps patients could be stratified so that more uniform populations of patients with more rapid progression could be used, so as to reduce the time and length of trial needed to show a positive effect of a potential therapeutic.

Read more at PubMed HERE

Disruption of Higher Order DNA Structures in Friedreich's Ataxia (GAA)n Repeats by PNA or LNA Targeting

Expansion of (GAA)n repeats in the first intron of the Frataxin gene is associated with reduced mRNA and protein levels and the development of Friedreich's ataxia. (GAA)n expansions form specific molecular structures, and are associated with epigenetic modifications. With the aim of interfering with such DNA structures within pathological (GAA)n expansions, we examined sequence-specific interaction of peptide nucleic acid (PNA) with (GAA)n repeats of different lengths (short: n=9, medium: n=75 or long: n=115) by chemical probing. They found that different DNA structures were formed with GAA repeats of different lengths. Furthermore, they showed that some PNA's abolished the DNA structures by binding to the DNA. Locked nucleic acid (LNA) oligonucleotides also inhibited the triplex formation at GAA repeat expansion. Thus, by inhibiting disease related higher order DNA structures in the Frataxin gene, such PNA and LNA oligomers may have potential for discovery of drugs aiming at recovering Frataxin expression.

Read the entire article HERE

Save The Date - 2017 International Ataxia Research Conference

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