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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.

Patient reported outcomes in Friedreich's Ataxia after withdrawal from Idebenone

Idebenone is a potent antioxidant which has already been evaluated in several clinical trials in FRDA, with reports of symptomatic benefit but inconclusive objective results. Following patient consultation on design, this group completed a treatment withdrawal study to establish whether patients could correctly determine their treatment allocation to placebo or idebenone. Their aim was to capture subjective experiences of symptoms such as, for example, fatigue, which can be difficult to measure with questionnaires or semi-quantitative scales, particularly in chronic, slowly progressive conditions. Patients taking idebenone for at least 12 months as part of the open-label MICONOS Extension Study were randomized to receive either placebo or idebenone continuation for two-month treatment cycles. The primary endpoint was patient assessment of treatment assignment. A total of 29 patients were randomized, forming the idebenone group (n=16) and the placebo group (n=13). No significant differences were detected between the idebenone and placebo groups on assessment of treatment assignment or early study withdrawal. A small but significant difference in ataxia rating scale scores was detected between treatment groups when considering ambulatory patients only. This study provides no data to suggest that FRDA patients could correctly determine their treatment assignment over a 2-month period. We hope that this study design will help inform future trials so that patients' experiences of symptoms are more reliably measured.

Read the entire article HERE

Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia

Insufficient frataxin levels in FA patients lead to iron and copper deposits in the brain and cardiac cells. 25 confirmed FA patients were included in this study. The total iron and total copper concentrations were measured in blood plasma both in patients and age, sex matched healthy controls. The iron levels in plasma of FRDA patients were found to be significantly decreased as compared to healthy controls. A similar trend was observed in case of plasma copper levels in FRDA patient as compared to controls. Present results clearly show abnormal distribution of extra-cellular iron in FRDA patients, which is in accordance with the well established fact of intracellular iron overload, which is a key feature of the pathogenesis of this disease. This can be of importance in understanding the pathophysiology of the disease in association with frataxin/iron. It appears that intracellular sequestration of trace metals in FRDA patients (due to low frataxin) results in their sub-optimal levels in blood plasma (extra-cellular) an observation that can find prognostic application in clinical trials.

Read the entire article HERE

Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms

Intrathecal baclofen (ITB) treatment is considered a powerful tool in the management of severe spasticity in neurological conditions such as multiple sclerosis, cerebral palsy, and traumatic spinal cord and brain injury. This study assessed the effectiveness of the ITB in patients with inherited ataxia suffering from severe painful spasms and/or spasticity. A total of 5 patients with spinocerebellar ataxia 3 or 7 or Friedreich's ataxia were included in this observational multicenter study. The patients were interviewed and completed outcome measures assessing pain (The Brief Pain Inventory), fatigue (Fatigue Severity Scale), and life satisfaction (LiSAT-9) before and 1 year after the treatment. Spasticity (Modified Ashworth Scale) and spasm frequency (SPFS) were measured objectively for each patient. The mean treatment time was 1.9 years. Evaluation of established standard forms revealed symptomatic relief from spasticity, spasms, pain, and fatigue in addition to improved body posture, sleep, and life satisfaction after ITB treatment.

Read the entire article HERE

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

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