Torino-Italia, April 20-2018. In January, GoFAR awarded an additional grant of $450,000 to Manuela Corti, P.T., Ph.D., assistant professor of Dr. Barry Byrne M.D., Ph.D director of the UF Powell Gene Therapy Center. GoFAR originally began a collaboration with the UF Powell Gene Therapy Center in 2016 to develop AVV-mediated gene therapy for FA awarding a grant of $750,000.The total award of $1.2Ml has been staged to reach milestones toward the clinical implantation of the therapeutic strategy for FA. The most recent award will be used to complete preclinical studies and prepare data for submission to the U.S. Food and Drug Administration (FDA), the European Medicines Agency (EMA), and the Italian regulatory authority, Instituto Superiore della Sanità (ISS). Hopefully trials are expected to begin later this year.
International advocacy group GoFAR funds UF Health research for Friedreich’s ataxia gene therapy program
GoFAR reinforces partnership with Powell Gene Therapy Center at University of Florida (UF) to develop a gene therapy for Friedreich’s ataxia
Sunday, April 22, 2018
Friday, April 20, 2018
Retrotope Announces Peer-Reviewed Publication of Positive Phase 1b/2a Findings for RT001 in Friedreich’s Ataxia
Retrotope, April 18, 2018.
Protocol for Pivotal Clinical Trial Has Been Submitted to the US FDA
LOS ALTOS, Calif., April 18, 2018 (GLOBE NEWSWIRE) -- Retrotope announced today peer-reviewed publication of positive Phase 1b/2a trial results for the company's lead candidate, RT001, in patients with Friedreich's ataxia (FA). RT001 is the first in class of a new category of drugs called D-PUFAs (deuterated polyunsaturated fatty acids), which are designed to protect against free radical damage resulting in cell death that is a hallmark of several degenerative diseases, including FA. In an article titled, "Randomized, Clinical Trial of RT001: Early Signals of Efficacy in Friedreich's Ataxia" (DOI:10.1002/mds.27353), appearing online in Movement Disorders, results of the randomized, double-blind, comparator-controlled Phase 1b/2a trial demonstrated early signals of drug effect (including statistically significant improvements in peak exercise workload compared to placebo) and positive safety and tolerability.
Protocol for Pivotal Clinical Trial Has Been Submitted to the US FDA
LOS ALTOS, Calif., April 18, 2018 (GLOBE NEWSWIRE) -- Retrotope announced today peer-reviewed publication of positive Phase 1b/2a trial results for the company's lead candidate, RT001, in patients with Friedreich's ataxia (FA). RT001 is the first in class of a new category of drugs called D-PUFAs (deuterated polyunsaturated fatty acids), which are designed to protect against free radical damage resulting in cell death that is a hallmark of several degenerative diseases, including FA. In an article titled, "Randomized, Clinical Trial of RT001: Early Signals of Efficacy in Friedreich's Ataxia" (DOI:10.1002/mds.27353), appearing online in Movement Disorders, results of the randomized, double-blind, comparator-controlled Phase 1b/2a trial demonstrated early signals of drug effect (including statistically significant improvements in peak exercise workload compared to placebo) and positive safety and tolerability.
Wednesday, April 18, 2018
Could stem cell therapy be an effective treatment for Friedreich’s ataxia?
University of Bristol, Press release issued: 17 April 2018
Researchers at the University of Bristol are looking for people with an inherited neurological condition called Friedreich's ataxia (FA) to take part in a study into whether a stem cell therapy could be a treatment for FA.
The small, pilot study aims to recruit seven people to find out if the bone marrow stem cell mobilising drug, granulocyte-colony stimulating factor (GCSF), could improve blood markers and potentially treat the condition.
Researchers at the University of Bristol are looking for people with an inherited neurological condition called Friedreich's ataxia (FA) to take part in a study into whether a stem cell therapy could be a treatment for FA.
The small, pilot study aims to recruit seven people to find out if the bone marrow stem cell mobilising drug, granulocyte-colony stimulating factor (GCSF), could improve blood markers and potentially treat the condition.
Tuesday, April 17, 2018
Could statins ease deadly heart condition in rare neuromuscular disease?
AAS and EurekAlert, Public Release: 17-Apr-2018. University of Pennsylvania School of Medicine.
PHILADELPHIA - In preclinical studies using cell models that mimicked liver cells of patients with the rare disease Friedreich's ataxia (FA), a widely used cholesterol-lowering drug increased a precursor of HDL (high-density lipoprotein), the "good cholesterol," according to new research published in PLOS ONE from the Perelman School of Medicine at the University of Pennsylvania. Statins may be able to help Friedreich's ataxia patients increase their naturally low ApoA-I levels and so increase their HDL levels, which might help prevent heart disease.
PHILADELPHIA - In preclinical studies using cell models that mimicked liver cells of patients with the rare disease Friedreich's ataxia (FA), a widely used cholesterol-lowering drug increased a precursor of HDL (high-density lipoprotein), the "good cholesterol," according to new research published in PLOS ONE from the Perelman School of Medicine at the University of Pennsylvania. Statins may be able to help Friedreich's ataxia patients increase their naturally low ApoA-I levels and so increase their HDL levels, which might help prevent heart disease.
Wednesday, April 11, 2018
Mitochondria in the nervous system: From Health to disease, part II
Maria Teresa Carrì, Brian M. Polster, Philip M. Beart, Mitochondria in the nervous system: From Health to disease, part II, Neurochemistry International, Available online 10 April 2018, ISSN 0197-0186, doi:10.1016/j.neuint.2018.04.006.
In Part II of this Special Issue on "Mitochondria in the Nervous System: From Health to Disease", the editors bring together more reviews and original articles from researchers in the field of mitochondrial metabolism in the healthy and diseased nervous system. Subjects span from basic mitochondrial physiology to papers on mitochondrial dynamics and to those altered states of the nervous system that can be considered “mitopathologies”. Finally, a few papers approach aspects of mitochondrial biology linked to the feasibility and validity of a mitochondrial therapy.
The fact that lack of a single protein affects all of these processes supports the concept that they are all interconnected, albeit it is difficult to pinpoint the “primum movens” in the chain of events leading to neurodegeneration. Furthermore, Friedreich's ataxia is another example of a disease where mutations in a gene coding for a ubiquitously expressed protein mostly affect a specific tissue or cell type.
In Part II of this Special Issue on "Mitochondria in the Nervous System: From Health to Disease", the editors bring together more reviews and original articles from researchers in the field of mitochondrial metabolism in the healthy and diseased nervous system. Subjects span from basic mitochondrial physiology to papers on mitochondrial dynamics and to those altered states of the nervous system that can be considered “mitopathologies”. Finally, a few papers approach aspects of mitochondrial biology linked to the feasibility and validity of a mitochondrial therapy.
The fact that lack of a single protein affects all of these processes supports the concept that they are all interconnected, albeit it is difficult to pinpoint the “primum movens” in the chain of events leading to neurodegeneration. Furthermore, Friedreich's ataxia is another example of a disease where mutations in a gene coding for a ubiquitously expressed protein mostly affect a specific tissue or cell type.
Caso práctico enfermería: Intento de autolisis en Ataxia de Friedreich
Rocío del Carmen Ortiz Gutiérrez; Laura Quintana Pérez; María Romero Palomar; Revista Médica Electrónica PortalesMedicos.com, 10 abril, 2018
Con un plan de cuidados de enfermería, junto con el trabajo del resto de profesionales del equipo multidisciplinar, el ingreso en la unidad de agudos de la paciente ha resultado satisfactoria, en cuanto al afrontamiento de su patología crónica.
No obstante, se derivará a la unidad de salud mental de su centro de atención primaria, para posterior seguimiento. Se aconseja a su vez la asistencia a asociaciones de afectados de Ataxia de Friedreich para socialización con pacientes de igual a igual.
Con un plan de cuidados de enfermería, junto con el trabajo del resto de profesionales del equipo multidisciplinar, el ingreso en la unidad de agudos de la paciente ha resultado satisfactoria, en cuanto al afrontamiento de su patología crónica.
No obstante, se derivará a la unidad de salud mental de su centro de atención primaria, para posterior seguimiento. Se aconseja a su vez la asistencia a asociaciones de afectados de Ataxia de Friedreich para socialización con pacientes de igual a igual.
Sunday, April 8, 2018
Silent pauses in aphasia
Georgia Angelopoulou, Dimitrios Kasselimis, George Makrydakis, Maria Varkanitsa, Petros Roussos, Dionysis Goutsos, Ioannis Evdokimidis, Constantin Potagas, Neuropsychologia, Available online 7 April 2018, ISSN 0028-3932, doi:10.1016/j.neuropsychologia.2018.04.006.
Several studies have demonstrated that pausing may be affected by neurological conditions. Individuals with amyotrophic lateral sclerosis and Friedreich’s Ataxia have been shown to produce longer pauses in conversational speech compared to controls. These studies clearly show prominent differences in pausing between healthy participants and pathological populations. These studies have also demonstrated how pausing measures may be used as diagnostic markers and/or as markers of cognitive changes over time. Taken together, these findings suggest that pauses could be an integral aspect of cognitive assessment in clinical practice and research.
Several studies have demonstrated that pausing may be affected by neurological conditions. Individuals with amyotrophic lateral sclerosis and Friedreich’s Ataxia have been shown to produce longer pauses in conversational speech compared to controls. These studies clearly show prominent differences in pausing between healthy participants and pathological populations. These studies have also demonstrated how pausing measures may be used as diagnostic markers and/or as markers of cognitive changes over time. Taken together, these findings suggest that pauses could be an integral aspect of cognitive assessment in clinical practice and research.
Randomized, clinical trial of RT001: Early signals of efficacy in Friedreich's ataxia
Theresa Zesiewicz MD, FAAN, Frederic Heerinckx MPharm, Robert De Jager MD, FACP, Omid Omidvar MD, Marcus Kilpatrick PhD, Jessica Shaw MPH, Mikhail S. Shchepinov PhD, Movement Disorders : Official Journal of the Movement Disorder Society, First published: 6 April 2018 doi:10.1002/mds.27353
RT001 was found to be safe and tolerable over 28 days, and improved peak workload. Further research into the effect of RT001 in Friedreich's ataxia is warranted.
RT001 was found to be safe and tolerable over 28 days, and improved peak workload. Further research into the effect of RT001 in Friedreich's ataxia is warranted.
Strong correlations among four measures of disease progression in Friedreich's ataxia
Harry J. Saal PhD, Frederic Heerinckx, Rezi Zawadzki DrPH, Omid Omidvar MD, Marcus Kilpatrick PhD, Theresa Zesiewicz MD, Movement Disorders : Official Journal of the Movement Disorder Society [06 Apr 2018] Letter DOI: 10.1002/mds.27351
Using the data from a double-blind, placebo-controlled trial in 19 FRDA patients testing RT001 a linoleic acid derivative, baseline FARS-Neuro scores were compared with T25FW and CPET to measure peak workload/kg and peak oxygen consumption.
Using the data from a double-blind, placebo-controlled trial in 19 FRDA patients testing RT001 a linoleic acid derivative, baseline FARS-Neuro scores were compared with T25FW and CPET to measure peak workload/kg and peak oxygen consumption.
Saturday, April 7, 2018
Drosophila melanogaster Models of Friedreich’s Ataxia
P. Calap-Quintana, J. A. Navarro, J. González-Fernández, M. J. Martínez-Sebastián, M. D. Moltó, and J. V. Llorens, BioMed Research International, vol. 2018, Article ID 5065190, 20 pages, 2018. doi:10.1155/2018/5065190
FXN is evolutionarily conserved, with orthologs in essentially all eukaryotes and some prokaryotes, leading to the development of experimental models of this disease in different organisms. These FRDA models have contributed substantially to our current knowledge of frataxin function and the pathogenesis of the disease, as well as to explorations of suitable treatments. Drosophila melanogaster, an organism that is easy to manipulate genetically, has also become important in FRDA research. This review describes the substantial contribution of Drosophila to FRDA research since the characterization of the fly frataxin ortholog more than 15 years ago. Fly models have provided a comprehensive characterization of the defects associated with frataxin deficiency and have revealed genetic modifiers of disease phenotypes. In addition, these models are now being used in the search for potential therapeutic compounds for the treatment of this severe and still incurable disease.
FXN is evolutionarily conserved, with orthologs in essentially all eukaryotes and some prokaryotes, leading to the development of experimental models of this disease in different organisms. These FRDA models have contributed substantially to our current knowledge of frataxin function and the pathogenesis of the disease, as well as to explorations of suitable treatments. Drosophila melanogaster, an organism that is easy to manipulate genetically, has also become important in FRDA research. This review describes the substantial contribution of Drosophila to FRDA research since the characterization of the fly frataxin ortholog more than 15 years ago. Fly models have provided a comprehensive characterization of the defects associated with frataxin deficiency and have revealed genetic modifiers of disease phenotypes. In addition, these models are now being used in the search for potential therapeutic compounds for the treatment of this severe and still incurable disease.
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