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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.

 


 

The role of robotic gait training and tDCS in Friedrich ataxia rehabilitation: A case report

In patients with FA, physiotherapy is highly recommended to improve motor function outcome. Cerebellar transcranial direct current stimulation (tDCS) has been demonstrated to be effective in improving symptoms by modulating cerebellar excitability. Recently, robotic rehabilitation with Lokomat-Pro has been used to treat motor impairment in ataxic syndromes by "modulating" cortical plasticity and cerebello-motor connectivity. This group tested this type of robotic rehabilitation on a single 29-year-old Italian male with FA. The group tested the effects of a stand-alone robotic gait training with Lokomat-Pro preceded by cerebellar tDCS (tDCS). They found that the coupled approach (i.e., tDCS and Lokomat) demonstrated better improvement in functional motor outcomes on the Scale for the Assessment and Rating of Ataxia (SARA). Although only a single case is described, the group suggests that the combined neuromodulation-neurorobotic approach could become a promising tool in the rehabilitation of cerebellar ataxias, possibly by shaping cerebello-cerebral plasticity and connectivity.

Read the entire article HERE

The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models

Friedreich's ataxia (FA) is a rare early-onset degenerative disease that affects both the central and peripheral nervous systems, and other tissues, mainly the heart and pancreas. This disorder progresses as a mixed sensory and cerebellar ataxia, primarily disturbing the proprioceptive pathways in the spinal cord, peripheral nerves and nuclei of the cerebellum. FA is an inherited disease caused by an insufficient amount of the nuclear-encoded mitochondrial protein frataxin, which is an essential and highly evolutionary conserved protein whose deficit results in iron metabolism dysregulation and mitochondrial dysfunction. The first experimental evidence connecting frataxin with iron homeostasis came from yeast; iron accumulates in the mitochondria of yeast with deletion of the frataxin equivalent gene. This finding was soon linked to previous observations of iron deposits in the hearts of FA patients and was later reported in animal models of the disease. Despite advances made in the understanding of FA pathophysiology, the role of iron in this disease has not yet been completely clarified. Some of the questions still unresolved include the molecular mechanisms responsible for the iron accumulation and iron-mediated toxicity. Here, we review the contribution of the cellular and animal models of FA and relevance of the studies using FA patient samples to gain knowledge about these issues. Mechanisms of mitochondrial iron overload are discussed considering the potential roles of frataxin in the major mitochondrial metabolic pathways that use iron. We also analyzed the effect of iron toxicity on neuronal degeneration in FA by reactive oxygen species (ROS)-dependent and ROS-independent mechanisms. Finally, therapeutic strategies based on the control of iron toxicity are considered.

Read the entire article HERE

Progress in understanding Friedreich's ataxia using human induced pluripotent stem cells

Neuronal and cardiac cells are primary targets of frataxin deficiency and generating models via differentiation of induced pluripotent stem cells (iPSCs) into these cell types is essential for progress towards developing therapies for FA. This review is focused on modeling FA using human iPSCs and various iPSC-differentiated cell types. The authors emphasize the importance of patient and corrected isogenic cell line pairs to minimize effects caused by biological variability between individuals.

The versatility of iPSC-derived cellular models of FA is advantageous for developing new therapeutic strategies, and rigorous testing in such models will be critical for approval of the first treatment for FA. Creating a well-characterized and diverse set of iPSC lines, including appropriate isogenic controls, will facilitate achieving this goal. Also, improvement of differentiation protocols, especially towards proprioceptive sensory neurons and organoid generation, is necessary to utilize the full potential of iPSC technology in the drug discovery process.

Read the entire article HERE

C-Path and FARA announce the launch of the FA Integrated Clinical Database

Critical Path Institute's (C-Path) Data Collaboration Center (DCC) and the Friedreich's Ataxia Research Alliance (FARA) today announced the launch of the Friedreich's Ataxia Integrated Clinical Database (FAICD). The new platform will enable collaborative research and data sharing to support the understanding of natural history, potential biomarkers and clinical endpoints, and promote research into novel clinical trial design in Friedreich's ataxia (FA). By making this data available to researchers, the organizations hope to enable the development of tools that will help design and interpret efficient clinical trials — leading to effective treatments for FA as soon as possible.

Read the entire Press Release HERE

Minoryx Therapeutics receives approval from Spanish regulatory agency to initiate Phase 2 Study in Friedreich's Ataxia

Mataró, Barcelona, Spain and Charleroi, Belgium, February 27, 2019 – Minoryx Therapeutics, a company specializing in the development of new drugs for orphan diseases, today announces that it has received approval from the Spanish Agency of Medicines and Medical Devices (AEMPS) to launch a phase 2 clinical trial in Friedreich’s Ataxia with its lead candidate, MIN-102.

The company is also proud to announce the appointment of two key opinion leaders to its scientific advisory board, Dr. Massimo Pandolfo, director of the Laboratory of Experimental Neurology at the Université Libre de Bruxelles, and Dr. Fanny Mochel, group leader at the Brain and Spine Institute of La Pitié-Salpêtrière University Hospital in Paris (ICM).

Read the Minoryx Press Release HERE

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