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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.

 


 

Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich Ataxia

The Friedreich ataxia is a monogenic disease due to a hyper-expanded GAA triplet located within the first intron of the frataxin gene that causes transcriptional issues. The resulting frataxin protein deficiency leads to a Fe-S cluster biosynthesis dysfunction in the mitochondria and to oxidative stress and cell death. Here, we use the CRISPR-Cas9 system to remove the mutated GAA expansion and restore the frataxin gene transcriptional activity and protein level.

Read more HERE

Mitochondrial capacity, muscle endurance & low energy in friedreich ataxia

The group evaluated skeletal muscle mitochondrial capacity, muscle-specific endurance, and energy/fatigue feelings in sixteen people with Friedrich ataxia and compared them to ten controls. Forearm mitochondrial capacity was measured using the rate of recovery of oxygen consumption after electrical stimulation with near-infrared spectroscopy. Mechanomyography (MMG) assessed muscle endurance after electrical stimulation for 3-minutes at 2Hz, 4Hz, and 6Hz. Validated scales assessed disease severity and energy/fatigue feelings. Groups did not differ in mitochondrial capacity.

Read more HERE

Liver Growth Factor (LGF) Upregulates Frataxin Protein Expression and Reduces Oxidative Stress in Friedreich's Ataxia Transgenic Mice

Friedreich's ataxia (FA) is a severe disorder with autosomal recessive inheritance that is caused by the abnormal expansion of GAA repeat in intron 1 of FRDA gen. This alteration leads to a partial silencing of frataxin transcription, causing a multisystem disorder disease that includes neurological and non-neurological damage. Recent studies have proven the effectiveness of neurotrophic factors in a number of neurodegenerative diseases. Therefore, we intend to determine if liver growth factor (LGF), which has a demonstrated antioxidant and neuroprotective capability, could be a useful therapy for FA.

Read more HERE

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

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