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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.



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

Guidelines on the diagnosis and management of the progressive ataxias

The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the lack of awareness of this group of conditions, has developed medical guidelines for the diagnosis and management of ataxia. Although ataxia can be a symptom of many common conditions, the focus here is on the progressive ataxias, and include hereditary ataxia (e.g. spinocerebellar ataxia (SCA), Friedreich's ataxia (FRDA)), idiopathic sporadic cerebellar ataxia, and specific neurodegenerative disorders in which ataxia is the dominant symptom (e.g. cerebellar variant of multiple systems atrophy (MSA-C)). Over 100 different disorders can lead to ataxia, so diagnosis can be challenging. Although there are no disease-modifying treatments for most of these entities, many aspects of the conditions are treatable, and their identification by HCPs is vital. The early diagnosis and management of the (currently) few reversible causes are also of paramount importance. More than 30 UK health professionals with experience in the field contributed to the guidelines, their input reflecting their respective clinical expertise in various aspects of ataxia diagnosis and management. They reviewed the published literature in their fields, and provided summaries on "best" practice, including the grading of evidence available for interventions, using the Guideline International Network (GIN) criteria, in the relevant sections.A Guideline Development Group, consisting of ataxia specialist neurologists and representatives of Ataxia UK (including patients and carers), reviewed all sections, produced recommendations with levels of evidence, and discussed modifications (where necessary) with contributors until consensus was reached. Where no specific published data existed, recommendations were based on data related to similar conditions (e.g. multiple sclerosis) and/or expert opinion. The guidelines aim to assist HCPs when caring for patients with progressive ataxia, indicate evidence-based (where it exists) and best practice, and act overall as a useful resource for clinicians involved in managing ataxic patients. They do, however, also highlight the urgent need to develop effective disease-modifying treatments, and, given the large number of recommendations based on "good practice points", emphasise the need for further research to provide evidence for effective symptomatic therapies.These guidelines are aimed predominantly at HCPs in secondary care (such as general neurologists, clinical geneticists, physiotherapists, speech and language therapists, occupational therapists, etc.) who provide care for individuals with progressive ataxia and their families, and not ataxia specialists. It is a useful, practical tool to forward to HCPs at the time referrals are made for on-going care, for example in the community.

Read the entire article HERE

In Vitro interaction between yeast frataxin and superoxide dismutases: Influence of mitochondrial metals

Friedreich's ataxia results from a decreased expression of the nuclear gene encoding the mitochondrial protein, frataxin. Frataxin participates in the biosynthesis of iron-sulfur clusters and heme cofactors, as well as in iron storage and protection against oxidative stress. How frataxin interacts with the antioxidant defence components is poorly understood.This group investigated the molecular interactions between yeast frataxin (Yfh1) and superoxide dismutases, Sod1 and Sod2, and the influence of Yfh1 on their enzymatic activities using kinetic, thermodynamic and modelling approaches. They found that Yfh1 interacts with cytosolic Sod1 in two kinetic steps. The first step corresponds to the Yfh1-Sod1 interaction, whereas the second is assumed to be a change in the conformation of the protein-protein adduct. Furthermore, computational investigations confirm the stability of the Yfh1-Sod1 complex. Yfh1 forms two protein complexes with mitochondrial Sod2 with 1:1 and 2:1 Yfh1/Sod2 stoichiometry (Kd1 = 1.05 ± 0.05 and Kd2 = 6.6 ± 0.1 μM). Furthermore, Yfh1 increases the enzymatic activity of Sod1 while slightly affecting that of Sod2. Finally, the stabilities of the protein-protein adducts and the effect of Yfh1 on superoxide dismutase activities depend on the nature of the mitochondrial metal. This work confirms the participation of Yfh1 in cellular defense against oxidative stress.

Read the entire article HERE

The role of mitochondrial labile iron in Friedreich's ataxia skin fibroblasts sensitivity to ultraviolet A

Mitochondrial labile iron (LI) is a big factor in how sensitive skin cells are to ultraviolet A (UVA)-induced oxidative damage, which leads to cell death. Mitochondria iron overload is a key feature of FA. This group shows that cultured skin cells from FRDA patients are 4 to 10-fold more sensitive to UVA-induced death than their healthy counterparts. They show that FA cells have higher levels of mitochondrial LI (up to 6-fold on average compared to healthy counterparts) and show higher increase in mitochondrial reactive oxygen species (ROS) generation after UVA irradiation (up to 2-fold on average), consistent with their differential sensitivity to UVA. Pre-treatment of the FA cells with a bespoke mitochondrial iron chelator greatly reduces the UVA-mediated cell death and UVA-induced damage to the mitochondrial membrane. These results reveal a link between FA as a disease of mitochondrial iron overload and sensitivity to UVA of skin fibroblasts. These findings suggest that the high levels of mitochondrial LI in FA cells which contribute to high levels of mitochondrial ROS production after UVA irradiation are likely to play a crucial role in the marked sensitivity of these cells to UVA-induced oxidative damage.

Read the entire article HERE

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