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FARAFARA Cure FA

 

FARA Funded Research

Your generous support has funded all the research listed below.

For more information on FARA-funded research & scientists, please visit FARA Supported Research, Active Clinical Trials and the Featured Scientist.


 

 

The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting

The 2018 FARA Biomarker Meeting highlighted the current state of development of biomarkers for Friedreich's ataxia. A mass spectroscopy assay to sensitively measure mature frataxin (reduction of which is the root cause of disease) is being developed. Biomarkers to monitor neurological disease progression include imaging, electrophysiological measures and measures of nerve function, which may be measured either in serum and/or through imaging-based technologies. Potential pharmacodynamic biomarkers include metabolic and protein biomarkers and markers of nerve damage. Cardiac imaging and serum biomarkers may reflect cardiac disease progression. Considerable progress has been made in the development of biomarkers for various contexts of use, but further work is needed in terms of larger longitudinal multisite studies, and identification of novel biomarkers for additional use cases.

Read the entire article HERE

Evaluation of antibodies for western blot analysis of frataxin protein isoforms

Frataxin is the protein that is down-regulated in Friedreich ataxia (FA). There are currently no approved treatments for FA, although experimental approaches involving up-regulation or replacement of mature frataxin protein through numerous approaches are being tested. Many of the pre-clinical studies of these experimental approaches are conducted in mouse and monkey models as well as in human cell lines. Consequently, well-validated antibodies are required for use in western blot analysis to determine whether levels of various forms of frataxin have been increased. This group examined the specificity of five commercially available anti-frataxin antibodies and determined whether they detect mature frataxin in mouse heart tissue. Four protein standards of monkey, human, and mouse frataxin as well as mouse heart tissue were examined using polyacrylamide gel electrophoresis (PAGE) in combination with western blot analysis. One antibody failed to detect any of the frataxin standards or endogenous frataxin in mouse heart tissue. Three of the antibodies detected a protein in mouse heart tissue that ran slightly faster on PAGE (at 23.4 kDa) to that predicted for full-length frataxin (23.9 kDa). One antibody detected all four frataxin standards as well as His-tagged and endogenous mouse mature frataxin in mouse tissue. Significantly, this antibody, which will be useful for monitoring mature frataxin levels in monkey, human, and mouse tissues, did not detect a protein in mouse heart tissue at 23.4 kDa. Therefore, antibodies detecting the immunoreactive protein at 23.4 kDa could be misleading when testing for the up-regulation of frataxin in animal models.

Read the entire article HERE

Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia

This group used magnetoencephalography to investigate the developmental vs progressive character of the impairment of spinocortical proprioceptive pathways in Friedreich ataxia (FRDA). Neuromagnetic signals were recorded from 16 right-handed patients with FRDA (9 female patients, mean age 27 years, mean Scale for the Assessment and Rating Of ataxia [SARA] score 22.25) and matched healthy controls while they performed right finger movements either actively or passively. The coupling between movement kinematics (i.e., acceleration) and neuromagnetic signals was assessed by the use of coherence at sensor and source levels. Such coupling, that is, the corticokinematic coherence (CKC), specifically indexes proprioceptive afferent inputs to the contralateral primary sensorimotor (cSM1) cortex. Nonparametric permutations and Spearman rank correlation test were used for statistics. In both groups of participants and movement conditions, significant coupling peaked at the cSM1 cortex. Coherence levels were 70% to 75% lower in patients with FRDA than in healthy controls in both movement conditions. In patients with FRDA, coherence levels correlated with genotype alteration (i.e., the size of GAA1 triplet expansion) and the age at symptom onset but not with disease duration or SARA score. This study provides electrophysiologic evidence demonstrating that proprioceptive impairment in FRDA is mostly genetically determined and scarcely progressive after symptom onset. It also positions CKC as a potential biomarker of proprioceptive impairment in FRDA.

Read the entire article HERE

Open label Pilot Study of Oral Methylprednisolone for the Treatment of Patients with Friedreich Ataxia

This group assessed the effect of methylprednisolone on safety, tolerability and ability in Friedreich Ataxia (FRDA). The study was an open-label trial of pulse methylprednisolone on 11 participants with FRDA. All participants followed a 28-day treatment cycle, repeated 7 times. Patients were assessed with the timed 25 foot walk (T25FW), 1-minute walk (1MW), the Friedreich Ataxia Rating Scale (FARS), and 9-Hole Peg Test (9HPT). Efficacy was tested by comparing baseline and week 26 visits, separated into adult and pediatric groups. In comparisons of participants' baseline and week 26 visits, only the pediatric cohort's 1MW score showed change (p

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Altered neocortical tactile but preserved auditory early change detection responses in Friedreich ataxia

This group used magnetoencephalography (MEG) to study the spatio-temporal dynamics of responses involved in sensory processing in the neocortex, and the identify any early changes that might occur in FA. They looked at tactile (TERs) and auditory (AERs) evoked responses and early neocortical change detection responses indexed by the mismatch negativity (MMN) in sixteen FRDA patients and matched healthy subjects. They looked for correlations between the maximal amplitude of each response, genotype and clinical parameters. They found that evoked responses were detectable in all FRDA patients but one. In patients, TERs were delayed and reduced in amplitude, while AERs were only delayed. Only tactile MMN responses at the contralateral secondary somatosensory cortex were altered in FRDA patients. Maximal amplitudes of TERs, AERs and tactile MMN correlated with genotype, but did not correlate with clinical parameters. The authors conclude that in FRDA, the amplitude of tactile MMN responses are reduced and correlate with the genotype, while auditory MMN responses are not altered.

Read the entire article HERE

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