Friday, November 13, 2015
Développement d'un nouveau modèle cellulaire de l'ataxie de Friedreich : différenciation de cellules pluripotentes induites de patients en cardiomyocytes
Aurore Hick. (Theses) Rhumatologie et système ostéo-articulaire. Université de Strasbourg, 2014. Français.
Thursday, November 12, 2015
Frataxin knockdown in Drosophila alters mitochondrial homeostasis and degradation in muscles and glia
Seminars: IGC - Instituto Gulbenkian de Ciência (Portugal), Speaker: Juan Navarro, Affiliation: Institut für Zoologie, Universität Regensburg, Germany, Date 13/11/2015
Wednesday, November 11, 2015
Normative Data for an Instrumental Assessment of the Upper-Limb Functionality
Marco Caimmi, Eleonora Guanziroli, Matteo Malosio, Nicola Pedrocchi, Federico Vicentini, Lorenzo Molinari Tosatti and Franco Molteni, BioMed Research International Volume 2015 (2015), Article ID 484131, 14 pages doi:10.1155/2015/484131
This work led to the creation of a reliable database of normative data of the Reaching and Hand-to-Mouth Evaluation Method. Its simplicity and brevity make the whole procedure widely applicable to the UL functional assessment.
This work led to the creation of a reliable database of normative data of the Reaching and Hand-to-Mouth Evaluation Method. Its simplicity and brevity make the whole procedure widely applicable to the UL functional assessment.
Tuesday, November 10, 2015
Structural and Functional Magnetic Resonance Imaging of the Cerebellum: Considerations for Assessing Cerebellar Ataxias
Andreas Deistung , Maria R. Stefanescu, Thomas M. Ernst, Marc Schlamann, Mark E. Ladd, Jürgen R. Reichenbach, Dagmar Timmann, Review: The Cerebellum pp 1-5 First online: 31 October 2015 DOI 10.1007/s12311-015-0738-9
Data from initial fMRI studies are presented in three common forms of hereditary ataxias (Friedreich’s ataxia, spinocerebellar ataxia type 3, and spinocerebellar ataxia type 6).
Data from initial fMRI studies are presented in three common forms of hereditary ataxias (Friedreich’s ataxia, spinocerebellar ataxia type 3, and spinocerebellar ataxia type 6).
Saturday, November 7, 2015
Patent: METHODS AND PHARMACEUTICAL COMPOSITIONS FOR THE TREATMENT AND THE PREVENTION OF CARDIOMYOPATHY DUE TO FRIEDREICH ATAXIA
Inventor(s): PUCCIO HELENE MONIQUE [FR]; AUBOURG PATRICK [FR]; CRYSTAL RONALD G [US]; BOUGNERES PIERRE [FR]
Application number: US201514718696 20150521
A method for preventing or treating cardiomyopathy due to energy failure in a subject in need thereof is provided. The method comprises administering to the subject a therapeutically effective amount of a vector which comprises a nucleic acid sequence encoding a gene that can reverse energy failure. An exemplary cardiomyopathy is that which is associated with Friedreich ataxia and an exemplary nucleic acid sequence comprises a nucleic acid that encodes frataxin (FXN).
Application number: US201514718696 20150521
A method for preventing or treating cardiomyopathy due to energy failure in a subject in need thereof is provided. The method comprises administering to the subject a therapeutically effective amount of a vector which comprises a nucleic acid sequence encoding a gene that can reverse energy failure. An exemplary cardiomyopathy is that which is associated with Friedreich ataxia and an exemplary nucleic acid sequence comprises a nucleic acid that encodes frataxin (FXN).
Management of Children with Mild, Moderate, and Moderately Severe Sensorineural Hearing Loss
Anne Marie Tharpe, Samantha Gustafson, Otolaryngologic Clinics of North America, Volume 48, Issue 6, December 2015, Pages 983-994, ISSN 0030-6665, doi:10.1016/j.otc.2015.07.005.
The roles of pediatricians and otolaryngologists in referring children for appropriate assessments and interventions, and encouraging families to comply with hearing technology use and therapeutic intervention are crucial to ensuring the best possible outcomes.
The roles of pediatricians and otolaryngologists in referring children for appropriate assessments and interventions, and encouraging families to comply with hearing technology use and therapeutic intervention are crucial to ensuring the best possible outcomes.
Friday, November 6, 2015
UAB researchers seek Friedreich’s ataxia biomarkers
UAB News, University of Alabama at Birmingham, November 04, 2015
“There is a high demand for biomarkers because of ongoing clinical trials with Friedreich’s ataxia patients,” said Marek Napierala, Ph.D., assistant professor in UAB Department of Biochemistry and Molecular Genetics, UAB Stem Cell Institute. “We need better measures of the progression of the disease and the therapeutic response.”
“There is a high demand for biomarkers because of ongoing clinical trials with Friedreich’s ataxia patients,” said Marek Napierala, Ph.D., assistant professor in UAB Department of Biochemistry and Molecular Genetics, UAB Stem Cell Institute. “We need better measures of the progression of the disease and the therapeutic response.”
Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia Study
ClinicalTrials.gov Identifier: NCT02593773, First received: October
29, 2015
The purpose of this phase 3 multi-center, open-label extension study is to evaluate the long-term safety of ACTIMMUNE (interferon-γ 1b) in subjects with Friedreich's Ataxia (FA).
Drug: Interferon γ-1b, Other Name: ACTIMMUNE
Approximately 90 subjects will receive subcutaneous (SC) doses of ACTIMMUNE three times a week (TIW) for a total of 26 weeks. The study drug dose is planned to be escalated on a weekly basis over the first 4 weeks of treatment (from 10 µg/m² to 25, 50, and 100 µg/m²). The dose may be reduced, interrupted, or held based on tolerability. By week 13, all subjects are to be on a stable tolerated dose of study drug in order to continue study participation; the dose may not be further increased after week 13, however, it may be reduced on a case-by-case basis to manage drug-related AEs.
The purpose of this phase 3 multi-center, open-label extension study is to evaluate the long-term safety of ACTIMMUNE (interferon-γ 1b) in subjects with Friedreich's Ataxia (FA).
Drug: Interferon γ-1b, Other Name: ACTIMMUNE
Approximately 90 subjects will receive subcutaneous (SC) doses of ACTIMMUNE three times a week (TIW) for a total of 26 weeks. The study drug dose is planned to be escalated on a weekly basis over the first 4 weeks of treatment (from 10 µg/m² to 25, 50, and 100 µg/m²). The dose may be reduced, interrupted, or held based on tolerability. By week 13, all subjects are to be on a stable tolerated dose of study drug in order to continue study participation; the dose may not be further increased after week 13, however, it may be reduced on a case-by-case basis to manage drug-related AEs.
Frataxin Is Localized to Both the Chloroplast and Mitochondrion and Is Involved in Chloroplast Fe-S Protein Function in Arabidopsis.
Turowski VR, Aknin C, Maliandi MV, Buchensky C, Leaden L, Peralta DA,
Maria V. Busi, Alejandro Araya, Diego F. Gomez-Casati, PLoS ONE 10(10):
e0141443. doi:10.1371/journal.pone.0141443
A personal perspective of orphan drug development for rare diseases: A golden opportunity or an unsustainable future?
Oo, C. and Rusch, L. M. Journal of Clinical Pharma. doi: 10.1002/jcph.599
Nevertheless, there is no better opportunity than the present to develop orphan drugs in order to accelerate the treatment and alleviate the suffering of patients with rare diseases.
Nevertheless, there is no better opportunity than the present to develop orphan drugs in order to accelerate the treatment and alleviate the suffering of patients with rare diseases.
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