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).
Saturday, November 7, 2015
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.
Tuesday, October 27, 2015
Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE-FRDA study
Ian H. Harding1, Louise A. Corben, Elsdon Storey, Gary F. Egan, Monique R. Stagnitti, Govinda R. Poudel, Martin B. Delatycki and Nellie Georgiou-Karistianis. Hum. Brain Mapp.. doi: 10.1002/hbm.23034
These fronto-cerebellar disturbances provide a putative biological basis for the nonmotor symptoms observed in FRDA, and reflect the consequence of localized cerebellar pathology to distributed brain function underlying higher-order cognition
These fronto-cerebellar disturbances provide a putative biological basis for the nonmotor symptoms observed in FRDA, and reflect the consequence of localized cerebellar pathology to distributed brain function underlying higher-order cognition
Tuesday, October 20, 2015
URINARY, BOWEL AND SEXUAL FUNCTION IN PATIENTS WITH FRIEDREICH'S ATAXIA
Meher Lad, Michael Parkinson, Myriam Rai, Massimo Pandolfo, Sinead Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti; J Neurol Neurosurg Psychiatry 2015;86:e4 doi:10.1136/jnnp-2015-312379.74
Urinary and lower gastro-intestinal symptoms can have a severe impact on patients with FRDA although they are under-recognised.
Urinary and lower gastro-intestinal symptoms can have a severe impact on patients with FRDA although they are under-recognised.
Monday, October 19, 2015
Compassionate use of orphan drugs
Hanna I. Hyry, Jeremy Manuel, Timothy M. Cox and Jonathan C. P. Roos; Orphanet Journal of Rare Diseases 2015, 10:100 doi:10.1186/s13023-015-0306-x
OPEN ACCESS
Compelling self-interested, legal and ethical arguments can be mounted to encourage manufacturers to offer therapies on a compassionate use basis and these are often equally applicable to provision on a humanitarian aid basis. The EU’s compassionate use programmes are instrumental in ensuring continuity of access to drugs until approval and reimbursement decisions are finalised.
OPEN ACCESS
Compelling self-interested, legal and ethical arguments can be mounted to encourage manufacturers to offer therapies on a compassionate use basis and these are often equally applicable to provision on a humanitarian aid basis. The EU’s compassionate use programmes are instrumental in ensuring continuity of access to drugs until approval and reimbursement decisions are finalised.
Sunday, October 18, 2015
Patient-Funded Trials: Opportunity or Liability?
Danielle Marie Wenner, Jonathan Kimmelman, Alex John London, Patient-Funded Trials: Opportunity or Liability?, Cell Stem Cell, Volume 17, Issue 2, 6 August 2015, Pages 135-137, ISSN 1934-5909, doi:10.1016/j.stem.2015.07.016.
The goals of Patient-Funded Trials to empower patients, expand available research resources, and accelerate the pace of translation are worthy and important objectives. Because the current system lacks regulations or incentives that constructively channel the desires of patients, the ardor of investigators, and the profit motives of host clinics, this funding model harbors important liabilities for both patients and the broader clinical research enterprise.
The goals of Patient-Funded Trials to empower patients, expand available research resources, and accelerate the pace of translation are worthy and important objectives. Because the current system lacks regulations or incentives that constructively channel the desires of patients, the ardor of investigators, and the profit motives of host clinics, this funding model harbors important liabilities for both patients and the broader clinical research enterprise.
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