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Gottesfeld, J.M. Neurotherapeutics (2019). doi:10.1007/s13311-019-00764-x

Numerous approaches are being taken to find a treatment for FRDA, including excision or correction of the repeats by genome engineering methods, gene activation with small molecules or artificial transcription factors, delivery of frataxin to affected cells by protein replacement therapy, gene therapy, or small molecules to increase frataxin protein levels, and therapies aimed at countering the cellular consequences of reduced frataxin. This review will summarize the mechanisms involved in repeat-mediated gene silencing and recent efforts aimed at development of therapeutics.


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José Luis García‐Giménez, Carlos Romá‐Mateo, Federico V. Pallardó; Biofactors. 2019 Jun 11. doi: 10.1002/biof.1532.

Epigenetic regulation is attracting much attention because it explains many of the effects that the external environment induces in organisms. Changes in the cellular redox status and even more specifically in its nuclear redox compartment is one of these examples. Redox changes can induce modulation of the epigenetic regulation in cells. Here we present a few cases where reactive oxygen or nitrogen species induces epigenetic marks in histones. Posttranslational modification of these proteins like histone nitrosylation, carbonylation, or glutathionylation together with other mechanisms not reviewed here are the cornerstones of redox‐related epigenetic regulation. We currently face a new field of research with potential important consequences for the treatment of many pathologies.

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La spin off del Institut Germans Trias i Pujol (Igtp) quiere levantar once millones de euros durante los próximos cinco años para desarrollar la primera solución contra la ataxia de Friedrich, una enfermedad neurodegenerativa rara.Desde la empresa aseguran que distintos fondos de capital riesgo han mostrado interés en su proyecto. Por ahora, la compañía ya ha obtenido la patente internacional para su fármaco y tiene previsto solicitar la designación de medicamento huérfano a la Agencia Europea del Medicamento (EMA, por sus siglas en inglés). De momento, Biointaxis ha levantado 300.000 euros a través de un préstamo participativo suscrito por las distintas asociaciones de pacientes que sufren ataxia de Friedrich. “Nos gusta generar un retorno a las familias que sufren la enfermedad; pensamos que incorporarlos al proyecto desde el primer momento es la mejor fórmula”, comenta Matilla. Fundada en 2018, Biointaxis es una spin off del Institut Germans Trias i Pujol (Igtp), situada en Badalona (Barcelona). La empresa surgió del trabajo conjunto entre Antoni Matilla, licenciado en Biología por la Universidad de Barcelona (UB), e Ivelisse Sánchez, del grupo de investigación en neurogenética del Igtp. La ataxia de Friedrich es una enfermedad neurodegenerativa que afecta a más de 3.000 pacientes en España El equipo también ha contado con la colaboración de Miguel Chillón, profesor en el departamento de Bioquímica y Biología Molecular de la Universitat Autònoma de Barcelona (UAB). Asimismo, el proyecto contó con el apoyo de CaixaImpulse en 2016, el programa desarrollado por la Obra Social La Caixa para asesorar a aquellas iniciativas biomédicas en etapas early stage.

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Ian A Blair, Jennifer Farmer, Steven Hersch, Jane Larkindale, David R Lynch, Jill Napierala, Marek Napierala, R Mark Payne & Sub H Subramony; Future Sci OA. 2019 Jul; 5(6): FSO398. doi:10.2144/fsoa-2019-0026

Lay abstractBiomarkers are characteristics that can be objectively measured, evaluated and used as indicators of disease progression or the effect of a therapy. Friedreich’s ataxia is a progressive multisystem neuromuscular disease with no treatment. Current clinical measures cannot robustly detect disease progression in less than a year, meaning that clinical trials are long and drug development is slow. The Friedreich’s Ataxia Research Alliance and the scientific community are looking for biomarkers that show change in shorter time frames that can accelerate drug development. The 2018 FARA Biomarker Meeting summarized the exciting findings that represent the current state of the field.


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Liwei Weng, Qingqing Wang, Sixiang Yu, Xiaolu Yang, David R. Lynch, Clementina Mesaros, Ian A. Blair; Journal of Immunological Methods,
2019, doi:10.1016/j.jim.2019.07.001.

Well-validated antibodies are required for use in western blot analysis to determine whether levels of various forms of frataxin have been increased. Here we 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.

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Andy On-Tik Wong, Gabriel Wong, Michael Shen, Maggie Zi-Ying Chow, Wan Wai Tse, Bimal Gurung, Suet Yee Mak, Deborah K. Lieu, Kevin D. Costa, Camie W. Chan, Alain Martelli, Joseph F. Nabhan and Ronald A. Li; Stem Cell Research & Therapy 2019 10:203 doi:10.1186/s13287-019-1305-y

In summary, we demonstrated that the clinical symptoms of contractile and electrophysiological dysfunction in FRDA patients can be recapitulated by human cardiac tissues engineered from FXN-deficient hPSC-derived hvCMs. Translationally, the positive correlation between FXN expression and contractility and the results of our rescue experiments underscore the potential of FXN restoration by small molecules or gene therapy as an effective therapeutic strategy for suppressing or even reversing the cardiac symptoms of FRDA.


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Marie Beaudin, Antoni Matilla-Dueñas, Bing-Weng Soong, Jose Luiz Pedroso, Orlando G. Barsottini, Hiroshi Mitoma, Shoji Tsuji, Jeremy D. Schmahmann, Mario Manto, Guy A Rouleau, Christopher Klein, Nicolas Dupre. Cerebellum (2019). doi:10.1007/s12311-019-01052-2

There is currently no accepted classification of autosomal recessive cerebellar ataxias, a group of disorders characterized by important genetic heterogeneity and complex phenotypes. The objective of this task force was to build a consensus on the classification of autosomal recessive ataxias in order to develop a general approach to a patient presenting with ataxia, organize disorders according to clinical presentation, and define this field of research by identifying common pathogenic molecular mechanisms in these disorders.

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July 02, 2019, Source: Seelos Therapeutics, Inc.

NEW YORK, July 02, 2019 (GLOBE NEWSWIRE) -- Seelos Therapeutics, Inc. (NASDAQ: SEEL), a clinical-stage biopharmaceutical company, announced today that they have received a Notice of Allowance from the United States Patent and Trademark Office (USPTO) for Seelos’ U.S. Patent Application for SLS-005 (trehalose) for treating Friedreich Ataxia (FA).

Friedreich Ataxia (FA) is a rare inherited neuromuscular disease affecting the nervous system resulting in issues with balance and coordination, spinal deformity, cardiovascular issues and in some patients can lead to the onset of diabetes. It is among the group of neurological conditions related by the commonality of protein aggregations, such as Sanfilippo syndrome, Oculopharyngeal Muscular Dystrophy (OPMD) and Huntington's disease. FA affects about one in 50,000 people worldwide, making it the most common in a group of related disorders called hereditary ataxias. More information about FA can be found at: https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/friedreichs-ataxia-fact-sheet

SLS-005 already has orphan indication for Spinocerebellar Ataxia (SCA3) and Seelos is currently developing SLS-005 for Sanfilippo syndrome followed by the OPMD indication.

Related:
Bioblast Pharma Announces Sale of its Trehalose Clinical Development Programs to Seelos Therapeutics.
Tel Aviv, Israel, Feb. 19, 2019 (GLOBE NEWSWIRE) -- Bioblast Pharma Ltd. ( Nasdaq: ORPN), a clinical-stage, orphan disease-focused biotechnology company, today announced the sale of its Trehalose clinical development programs (including its advanced phase 2 clinical program of Trehalose to treat Oculoharyngeal Muscular Dystrophy (OPMD) to Seelos Therapeutics, Inc. (Nasdaq: SEEL), a clinical-stage biopharmaceutical company.

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Laura Guarga, Xavier Badia, Mercè Obach, Manel Fontanet, Alba Prat, Atonio Vallano, Josep Torrent and Caridad Pontes; Orphanet Journal of Rare Diseases 2019 14:157 doi:10.1186/s13023-019-1121-6

Orphan medicines show some characteristics that hinder the evaluation of their clinical added value. The often low level of evidence available for orphan drugs, together with a high budget impact and an incremental cost-effectiveness ratio many times higher than drugs used for non-orphan diseases, represent challenges in their appraisal and effective access to clinical use. In order to explore how to handle these hurdles, the Catalan Health Service (CatSalut) began an initiative on a multidimensional assessment of drugs value during the appraisal process. Reflective multicriteria decision analysis (MCDA) using analytical methods was chosen, since it may help to standardise and contextualize all the relevant data related with the drug that could contribute to a decision. The aim of the study was to determine whether the implementation of reflective MCDA methodology could support the decision-making process about orphan medicines in the context of CatSalut.

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Thiago Mazzo Peluzzo, Luciana Cardoso Bonadia, Amanda Donatti, Miriam Coelho Molck, Laura Bannach Jardim, Wilson Marques Jr, Iscia Teresinha Lopes-Cendes, Marcondes C. França Jr. Cerebellum (2019). doi:10.1007/s12311-019-01055-z

There were 143 unrelated patients (128 families), five of which had a single expanded allele. We identified point mutations in three out of these five (3/128 = 2.34%). Two patients had the c.157delC variant, whereas one individual had the novel variant c.482+1G>T. These results indicate that FXN point mutations are rare, but exist in Brazilian patients with FRDA. This has obvious implications for diagnostic testing and genetic counseling.

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