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*  Safety and Efficacy Study Evaluating TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) - Full Text...
TDP-43 Proteinopathies. Neurodegenerative Diseases. Proteostasis Deficiencies. Metabolic Diseases. Aphasia. Speech Disorders. ... Meets diagnostic criteria for probable bvFTD but has a proven mutation producing non-tau, non-TDP-43 pathology ...
  https://clinicaltrials.gov/ct2/show/NCT01626378?cond=%22inclusion+body+myopathy+with+early-onset+Paget+disease+and+frontotemporal+dementia%22+OR+%22Frontotemporal+Dementia%22+OR+%22Paget
*  A novel Drosophila model of TDP-43 proteinopathies: N-terminal sequences combined with the Q/N domain induce protein functional...
The AggIn (Flag-TDP-Δ1-ΔC-RRM2F/L-12×Q/N) plasmid was generated by site-directed mutagenesis using the pcDNA5/FRT/TO-Flag-TDP- ... TDP wt; left-hand two lanes), Flag-tagged TDP-12×Q/N (middle two lanes) or AggIn (right-hand two lanes) in stable HEK293 cell ... Flag-TDP-Δ1-ΔC-RRM2F/L-12×Q/N) construct are identified along with their relative position in the wild-type human TDP-43 ... 2012). TDP-43: gumming up neurons through protein-protein and protein-RNA interactions. Trends Biochem. Sci. 37, 237-247. doi: ...
  http://dmm.biologists.org/content/9/6/659
*  Enhancing Mitofusin/Marf ameliorates neuromuscular dysfunction in Drosophila models of TDP-43 proteinopathies. | MRC...
We show here for the first time that enhancing the profusion gene mitofusin/marf is beneficial in an in vivo model of TDP-43 ... Expression of TDP-43 impairs neuromuscular junction transmission upon repetitive stimulation of the giant fiber circuit that ... Using TDP-43-expressing Drosophila, we examined whether mitochondrial dysfunction is a central determinant in TDP-43 ... The precise mechanisms by which TDP-43 dysregulation leads to toxicity in neurons are not fully understood. ...
  http://www.mrc-mbu.cam.ac.uk/publications/2827/enhancing-mitofusinmarf-ameliorates-neuromuscular-dysfunction-drosophila-models
*  Pathologic Modifiers of TDP-43 Proteinopathies - John Trojanowski
Pathologic Modifiers of TDP-43 Proteinopathies Trojanowski, John Q. University of Pennsylvania, Philadelphia, PA, United States ... This will be done by studying TDP-43 Tg mice which recapitulate the hallmark features of FTLD-TDP that we cross with our ... Thus, the relevance of Project 4 to human health is that it will elucidate how TDP-43 mediated neurodegeneration is modified by ... proteinopathy and they have translational potential to improve both the diagnosis and the treatment of patients with TDP-43 ...
  http://grantome.com/grant/NIH/P01-AG017586-12-8579
*  TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and...
However, TDP-43 is not the only protein in disease-associated inclusions, and whether TDP-43 misfolds or is merely sequestered ... Several ALS-linked TDP-43 mutations within this domain (Q331K, M337V, Q343R, N345K, R361S, and N390D) increase the number of ... Thus, TDP-43 is intrinsically aggregation-prone, and its propensity for toxic misfolding trajectories is accentuated by ... Here, we report that, in the absence of other components, TDP-43 spontaneously forms aggregates bearing remarkable ...
  https://www.semanticscholar.org/paper/TDP-43-is-intrinsically-aggregation-prone%2C-and-and-Johnson-Snead/c3a5c683fa856049bafcb36b9a17efca836756a5
*  Caracterização das alterações da proteína TDP-43 durante o envelhecimento normal:...
A proteína TDP-43 (Transactive DNA-binding protein 43) é o principal agregado proteico anormal verificado em casos de ... Proteinopathies TDP-43. Resumo em inglês. BACKGROUND: Transactive DNA-binding protein 43 (TDP-43) is the major abnormal ... RESULTS: TDP-43 aggregates were present in 10,5% of the study subjects (n=323). Amygdala was the most frequently affected brain ... INTRODUÇÃO: A proteína TDP-43 (Transactive DNA-binding protein 43) é o principal agregado proteico anormal verificado em casos ...
  http://www.teses.usp.br/teses/disponiveis/5/5160/tde-18062015-114710/pt-br.php
*  Effect of Noninvasive Ventilation on Lung Function in Amyotrophic Lateral Sclerosis - Full Text View - ClinicalTrials.gov
Amyotrophic Lateral Sclerosis (ALS), or 'Lou Gehrig's Disease', is a fatal disorder that causes progressive degeneration and weakening of the muscles of breathing, leading to breathing insufficiency and eventually breathing failure. This breathing insufficiency is commonly treated with a breathing assistance device, known as noninvasive positive pressure ventilation (NIPPV). While generally well tolerated and accepted, it is not clear whether or to what extent NIPPV in fact helps breathing function: some data suggest that NIPPV preserves breathing function over time, whereas other data suggest that it actually causes breathing function to decline more quickly. No studies have shown what the acute effect of NIPPV is on breathing muscle function in ALS patients.. This study will test the hypothesis that the acute use of NIPPV, at pressure levels that are in common clinical use, will cause measurable changes in tests of breathing function, compared to baseline and to lower levels of NIPPV. We ...
  https://clinicaltrials.gov/ct2/show/NCT00537446?recr=Open&cond=%22Amyotrophic+Lateral+Sclerosis%22&rank=20
*  A Biospecimen and Clinical Data Study on Patients With Alzheimer's, Multiple Sclerosis, Parkinson's, and Huntington...
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies. ...
  https://clinicaltrials.gov/ct2/show/NCT01592552?recr=Open&cond=%22Huntington+Disease%22&rank=20
*  PRE-Symptomatic Studies in Amyotrophic Lateral Sclerosis - Full Text View - ClinicalTrials.gov
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies. ...
  https://clinicaltrials.gov/ct2/show/NCT01508962
*  Evaluation of a Transcranial Stimulation With Direct Current on Language Disorders in Semantic Dementia - Full Text View -...
TDP-43 Proteinopathies. Neurodegenerative Diseases. Proteostasis Deficiencies. Metabolic Diseases. Aphasia. Speech Disorders. ...
  https://clinicaltrials.gov/ct2/show/NCT03481933
*  Safety Study of HLA-haplo Matched Allogenic Bone Marrow Derived Stem Cell Treatment in Amyotrophic Lateral Sclerosis - Full...
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease characterized by motor neuron loss. Despite of many trials for disease-modifying, no treatment has so far changed natural course of disease.. The investigators had performed the pre-clinical and clinical studies using autologous bone marrow-derived stem cells in ALS. In the investigators' results of clinical trial, intrathecal injection of autologous bone marrow-derived stem cells is safe and could slow down disease progression and might be used as a disease modifying strategy in patients with ALS.. In the new field, like cell therapy, it is an important issue whether a bone marrow derived mesenchymal stem cells can be used as an allograft. Many investigators had showed that the immunoprivileged and immunosuppressive properties of mesenchymal stem cells result from the absence of major histocompatibility class II antigens and the secretion of T helper type 2 cytokines.. One potential advantage of allogenic bone marrow ...
  https://clinicaltrials.gov/ct2/show/NCT01758510?recr=Open&cond=%22Neuromuscular+Diseases%22&rank=14
*  PET Scan of Brain Metabolism in Relation to Age and Disease - Full Text View - ClinicalTrials.gov
The Brain Physiology and Metabolism Section (BPMS) of the National Institute on Aging (NIA) and the Clinical Neuroscience Program (CNP) of the National Institute of Neurological Disorders and Stroke (NINDS) propose to study regional brain phospholipid metabolism in young and old normal volunteers and in patients with Alzheimer disease. The method to be employed, developed from animal studies, involves the intravenous injection of a radiolabeled polyunsaturated fatty acid, [11C]arachidonic acid and measuring regional brain radioactivity using positron emission tomography (PET). A mathematical model is used to calculate regional brain incorporation coefficients k* of [11C]arachidonate into brain. These reflect brain signal transduction and membrane turnover involving phospholipids and the signal transduction and membrane turnover involving phospholipids and the activation of the enzyme, phospholipase A2. PET also will be used in the same subjects to measure regional cerebral blood flow (rCBF), a ...
  https://clinicaltrials.gov/ct2/show/NCT00001972?cond=%22niemann-pick+disease%22&rank=19
*  Muscular Biomarkers in Amyotrophic Lateral Sclerosis - Full Text View - ClinicalTrials.gov
Amyotrophic Lateral Sclerosis (ALS), the most common MND, is a fatal adult-onset neuromuscular disease. Due to clinical heterogeneity and absence of biological tools to diagnose ALS, the delay between the first symptoms and diagnosis averages 9-13 months. A group of pathophysiological processes, including oxidative stress and glutamate-mediated excitotoxicity contribute to cell death, but the triggering factor, the timing and the interaction of different cellular events await elucidation [2]. Unknown pathogenesis for most patients means few available treatments. The search for biomarkers that can aid diagnosis, characterize phenotype, define pathophysiology, identify endpoints in trials and measure disease progression is of utmost importance for the field. Some studies have advocated that muscle per se may be impaired by pathogenesis of the diseases. Muscle has been poorly studied and its central role in energetic metabolism suggests that this tissue, quite easily available, should be more ...
  https://clinicaltrials.gov/ct2/show/NCT02670226?term=Neuromuscular+Diseases&recrs=abc&cond=%22Amyotrophic+Lateral+Sclerosis%22&rank=18
*  Clinical Trial Ceftriaxone in Subjects With ALS - Full Text View - ClinicalTrials.gov
TDP-43 Proteinopathies. Proteostasis Deficiencies. Metabolic Diseases. Cephalosporins. Anti-Bacterial Agents. Anti-Infective ...
  https://clinicaltrials.gov/ct2/show?term=ceftriaxone+and+ALS&rank=1
*  Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS) - Full Text View - ClinicalTrials.gov
TDP-43 Proteinopathies. Proteostasis Deficiencies. Metabolic Diseases. Paresis. Neurologic Manifestations. Signs and Symptoms. ...
  https://clinicaltrials.gov/ct2/show/NCT00677768?term=Primary+Lateral+Sclerosis&rank=9
*  Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis - Full Text View - ClinicalTrials.gov
Introduction: Twenty-one ALS patients were enrolled in a placebo controlled pilot study at the Carolinas Neuromuscular/ALS-MDA Center, The University of Texas Health Science Center at San Antonio and The University of New Mexico at Albuquerque. At all time points sampled over a nine month period, patients taking creatine monohydrate had either a significantly greater improvement in their strength or a more modest decline compared to the patients taking placebo. Overall analysis of variance is significant for both an effect of the drug (p=0.002) and time (p, 0.001).The pilot study also showed that quality of life, as measured by ALSFRS-R, correlated significantly with the observed changes in muscle strength (MVIC).. Phase III Study: The primary objective of this study is to determine whether treatment with creatine monohydrate results in an increase in muscle strength relative to placebo in patients with amyotrophic lateral sclerosis (ALS), after three months, and at the end of a nine-month ...
  https://clinicaltrials.gov/ct2/show/NCT00069186?term=Amyotrophic+Lateral+Sclerosis+
*  Amyotrophic Lateral Sclerosis Web Based Patient Care Database: ALSConnection.Org - Full Text View - ClinicalTrials.gov
Any person who has been diagnosed with ALS by a physician can enroll into this registry.. The information you provide in the ALS registry will be used to evaluate variations in patient care, adherence to standards of care and also to help foster ALS research. An additional focus of this website will be to educate participating patients and visitors to this site about ongoing ALS research. ...
  https://clinicaltrials.gov/ct2/show/NCT00302198?cond=%22Amyotrophic+lateral+sclerosis%22&rank=10
*  Human Spinal Cord Derived Neural Stem Cell Transplantation for the Treatment of Amyotrophic Lateral Sclerosis - Full Text View ...
These stem cells are called Human Spinal Stem Cells (HSSC) and have been engineered from the spinal cord of a single fetus electively aborted after 8 weeks of gestation. The tissue was obtained with the mother's consent. The cells will be transplanted into the ALS patient's spinal cord after laminectomy, an operation that removes bone surrounding the spine. After the spinal cord is exposed, a device manufactured for this purpose will be mounted onto the patient and will hold a syringe filled with the cells. The syringe will have a needle attached and the needle will enter the spinal cord in specified areas. The device will minimize trauma to the spinal cord by the needle by making the puncture precise and steady and injecting the material at a slow and steady speed.. ALS is a universally fatal neurodegenerative condition that causes weakness leading to paralysis and death. Life expectancy is 2-5 years. The cause is unknown and there is no effective treatment. Previous research has shown that on ...
  https://clinicaltrials.gov/ct2/show/NCT01348451?term=amyotrophic+lateral+sclerosis&rank=31
*  Biomarker for Niemann Pick Type C Disease - Full Text View - ClinicalTrials.gov
TDP-43 Proteinopathies. Neurodegenerative Diseases. Proteostasis Deficiencies. Metabolic Diseases. Sphingolipidoses. Lysosomal ...
  https://clinicaltrials.gov/ct2/show/NCT01306604?recr=Open&cond=%22Language+Disorders%22&rank=16