Accept Cookies?
Provided by OpenGlobal E-commerce

Please wait while your page loads ...

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.


 

 

Cardiac transplantation in Friedreich Ataxia: Extended follow-up

Friedreich Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder most commonly caused by guanine-adenine-adenine (GAA) trinucleotide repeat expansions in both alleles of the FXN gene. Although progressive ataxia remains the hallmark clinical feature, patients with FRDA are at high risk of developing cardiomyopathy, often resulting in premature death. There is no specific treatment for FRDA-associated cardiomyopathy; even in advanced cardiac failure cardiac transplantation is not commonly pursued. This case series describes extended follow-up of three FRDA cases with end-stage heart failure but mild neurologic disease who underwent successful heart transplantation. We also review and examine the ethical considerations for heart transplantation in the setting of neurodegenerative disease.

Read more HERE

Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia

Early descriptions of Friedreich's Ataxia described depletion of myelinated fibers in the dorsal columns, dorsal spinocerebellar and lateral corticospinal tracts, and neuronal loss in the dorsal nuclei of Clarke columns. Lack of large neurons in dorsal root ganglia (DRG), thinning of dorsal roots (DR), and poor myelination in sensory nerves are now also recognized as key components of FA. Here, we measured cross-sectional areas of the mid-thoracic spinal cord (SC) and neuronal sizes in lumbosacral DRG of 24 genetically confirmed FA cases. Mean thoracic SC areas in FA (24.17 mm2) were significantly smaller than those in 12 normal controls (37.5 mm2); DRG neuron perikarya in FA (1362 µm2) were also significantly smaller than normal (2004 µm2). DRG neuron sizes were not correlated with SC areas. The FA patients included a wide range of disease onset and duration suggesting that the SC undergoes growth arrest early and remains abnormally small throughout life. Immunohistochemistry for phosphorylated neurofilament protein, peripheral myelin protein 22, and myelin proteolipid protein confirmed chaotic transition of axons into the SC in DR entry zones. We conclude that smaller SC areas and lack of large DRG neurons indicate hypoplasia rather than atrophy in FA.

Read more HERE

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

A longitudinal study of the SF-36 version 2 in Friedreich ataxia

OBJECTIVES: The Medical Outcomes Study 36 item Short-Form Health Survey (SF-36) is one of the most commonly used patient reported outcome measure. This study aimed to examine the relationship between SF-36 version 2 (SF-36V2) summary scores and Friedreich ataxia (FRDA) clinical characteristics, and to investigate the responsiveness of the scale, in comparison with the Friedreich Ataxia Rating Scale (FARS), over 1, 2 and 3 years.

MATERIALS AND METHODS: Descriptive statistics were used to examine the characteristics of the cohort at baseline and years 1, 2 and 3. Correlations between FRDA clinical characteristics and SF-36V2 summary scores were reported. Responsiveness was measured using paired t tests.

RESULTS: We found significant correlations between the physical component summary (PCS) of the SF-36V2 and various FRDA clinical parameters but none for the mental component summary. No significant changes in the SF-36V2 were seen over 1 or 2 years; however, PCS scores at Year 3 were significantly lower than at baseline (-3.3, SD [7.6], P=.01). FARS scores were found to be significantly greater at Years 1, 2 and 3 when compared to baseline.

Read the entire article HERE

Page 1 of 15

SHARE

FacebookTwitterLinkedinShare on Google+
Science A.jpg

 

Archived in
  Scientific News


 

 

Tagged in
FARA Scientific News