IRVING, Texas, April 24, 2018 (GLOBE NEWSWIRE) -- Reata Pharmaceuticals, Inc. (Nasdaq:RETA) (Reata or Company), a clinical-stage biopharmaceutical company, today announced new preclinical data demonstrating that omaveloxolone potently activates the Keap1/Nrf2 pathway, significantly reduces production of reactive oxygen species, and improves mitochondrial function in two different models of severe neurological diseases. These results support the rationale for clinical studies of omaveloxolone in neurodegenerative and neuromuscular disorders, including the ongoing pivotal MOXIe trial in patients with Friedreich’s ataxia.
Wednesday, April 25, 2018
Patient reported outcome measures in rare diseases: a narrative review
Anita Slade, Fatima Isa, Derek Kyte, Tanya Pankhurst, Larissa Kerecuk, James Ferguson, Graham Lipkin and Melanie Calvert, Orphanet Journal of Rare Diseases 2018 13:61 doi:10.1186/s13023-018-0810-x
Rare diseases can lead to a significant reduction in quality of life for patients and their families. Ensuring the patients voice is central to clinical decision making is key to delivering, evaluating and understanding the efficacy of therapeutic interventions. Patient reported outcome measures (PROMs) are used to capture the patient’s views about their health status and facilitate our understanding of the impact of these diseases and their treatments on patient’s quality of life and symptoms.
Rare diseases can lead to a significant reduction in quality of life for patients and their families. Ensuring the patients voice is central to clinical decision making is key to delivering, evaluating and understanding the efficacy of therapeutic interventions. Patient reported outcome measures (PROMs) are used to capture the patient’s views about their health status and facilitate our understanding of the impact of these diseases and their treatments on patient’s quality of life and symptoms.
Emergence of breath testing as a new non-invasive diagnostic modality for neurodegenerative diseases
N. Siva Subramaniam, C.S. Bawden, H. Waldvogel, R.M.L. Faull, G.S. Howarth, R.G. Snell, , Brain Research, Available online 22 April 2018, ISSN 0006-8993, doi:10.1016/j.brainres.2018.04.017.
Neurodegenerative diseases (NDDs) are incapacitating disorders that result in progressive motor and cognitive impairment. These disease include Alzheimer’s disease the most common cause of dementia, frontotemporal dementia, amyotrophic lateral sclerosis, dementia with Lewy bodies, Parkinson’s, Huntington’s, Friedreich’s ataxia, and prion disease.
The use of breath testing, as a means of monitoring neurodegenerative disease onset and progression, has the potential to have a significant impact on augmenting the diagnosis of NDDs as the approach is non-invasive, relatively cost effective and straight forward to implement. This review highlights key features of current diagnostic methods utilised to identif.
Neurodegenerative diseases (NDDs) are incapacitating disorders that result in progressive motor and cognitive impairment. These disease include Alzheimer’s disease the most common cause of dementia, frontotemporal dementia, amyotrophic lateral sclerosis, dementia with Lewy bodies, Parkinson’s, Huntington’s, Friedreich’s ataxia, and prion disease.
The use of breath testing, as a means of monitoring neurodegenerative disease onset and progression, has the potential to have a significant impact on augmenting the diagnosis of NDDs as the approach is non-invasive, relatively cost effective and straight forward to implement. This review highlights key features of current diagnostic methods utilised to identif.
Tuesday, April 24, 2018
The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects
Valentina Giorgio, Marco Schiavone, Chiara Galber, Marco Carini, Tatiana Da Ros, Valeria Petronilli, Francesco Argenton, Valerio Carelli, Manuel J. Acosta Lopez, Leonardo Salviati, Maurizio Prato, Paolo Bernardi, Biochimica et Biophysica Acta (BBA) - Bioenergetics, Available online 22 April 2018, ISSN 0005-2728, doi:10.1016/j.bbabio.2018.04.006.
Here we have studied the effects of quinones generated during in vivo metabolism of idebenone with specific emphasis on 6-(9-carboxynonyl)-2,3-dimethoxy-5-methyl-1,4-benzoquinone (QS10). QS10 partially restored respiration in cells deficient of complex I or of CoQ without inducing the mitochondrial permeability transition, a detrimental effect of idebenone that may offset its potential benefits.
Here we have studied the effects of quinones generated during in vivo metabolism of idebenone with specific emphasis on 6-(9-carboxynonyl)-2,3-dimethoxy-5-methyl-1,4-benzoquinone (QS10). QS10 partially restored respiration in cells deficient of complex I or of CoQ without inducing the mitochondrial permeability transition, a detrimental effect of idebenone that may offset its potential benefits.
Sunday, April 22, 2018
GoFAR reinforces partnership with Powell Gene Therapy Center at University of Florida (UF) to develop a gene therapy for Friedreich’s ataxia
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
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
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.
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