Date: Oct 12, 7:30 a.m.-4:00 p.m. (ET). DoubleTree by Hilton Hotel Philadelphia – Valley Forge. 301 West DeKalb Pike, King of Prussia, PA 19406
The Friedreich’s Ataxia Center of Excellence at The Children’s Hospital of Philadelphia is pleased to present this one-day symposium providing patients and families with up-to-date clinical information on therapeutic approaches and current research being conducted in the field of Friedreich’s ataxia.
Wednesday, September 2, 2015
University of South Florida and Friedreich's Ataxia Research Alliance to host scientific symposium
EurekAlert. Pharma, biotech leaders to discuss new clinical studies testing drugs and gene therapy for FA. University of South Florida (USF Health)
Tampa, FL (Sept 1, 2015) -- The University of South Florida (USF) will again bring together leading researchers and patients searching for a treatment for Friedreich's ataxia and related disorders at the seventh annual scientific symposium "Understanding Energy for A Cure." The symposium will be held 5 to 8:30 p.m., Thursday, Sept. 17, at the USF Marshall Student Center Ballroom, USF Cedar Circle, Tampa, FL 33620.
Tampa, FL (Sept 1, 2015) -- The University of South Florida (USF) will again bring together leading researchers and patients searching for a treatment for Friedreich's ataxia and related disorders at the seventh annual scientific symposium "Understanding Energy for A Cure." The symposium will be held 5 to 8:30 p.m., Thursday, Sept. 17, at the USF Marshall Student Center Ballroom, USF Cedar Circle, Tampa, FL 33620.
Monday, August 31, 2015
An exploratory qualitative investigation of psychosocial determinants of parental decisions to support sport participation for youth with a mobility impairment
Celina H. Shirazipour, Amy E. Latimer-Cheung, Kelly P. Arbour-Nicitopoulos, Research in Developmental Disabilities, Volumes 45–46, October–November 2015, Pages 400-410, ISSN 0891-4222, http://dx.doi.org/10.1016/j.ridd.2015.08.001.
Compared to parents of non-athletes, parents of athletes identified different, more specific positive outcome expectations, including: being included and family networking. First, while parents of non-athletes viewed inclusion as a social benefit, half of parents of athletes stated that inclusion through sport and being part of the mainstream were important benefits in their own rights, providing distinct outcomes including a sense of normalcy. Second, half of the parents of athletes identified the family benefit of networking with other families. The family network developed within the sport organization provided opportunities to share their enjoyment of their children’s participation, discuss impairment concerns, and gain knowledge from others’ experiences.
Compared to parents of non-athletes, parents of athletes identified different, more specific positive outcome expectations, including: being included and family networking. First, while parents of non-athletes viewed inclusion as a social benefit, half of parents of athletes stated that inclusion through sport and being part of the mainstream were important benefits in their own rights, providing distinct outcomes including a sense of normalcy. Second, half of the parents of athletes identified the family benefit of networking with other families. The family network developed within the sport organization provided opportunities to share their enjoyment of their children’s participation, discuss impairment concerns, and gain knowledge from others’ experiences.
Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia
Daman Kumari, Bruce Hayward, Asako J. Nakamura, William M. Bonner, Karen Usdin,Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Available online 30 August 2015, ISSN 0027-5107, http://dx.doi.org/10.1016/j.mrfmmm.2015.08.007.
The region of chromosome 9 that contains the Frataxin (FXN) locus is prone to breakage and rearrangements.This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or both copies of the affected gene when cells are grown under folate stress or as we showed previously, in the presence of an inhibitor of the ATM checkpoint kinase.
The region of chromosome 9 that contains the Frataxin (FXN) locus is prone to breakage and rearrangements.This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or both copies of the affected gene when cells are grown under folate stress or as we showed previously, in the presence of an inhibitor of the ATM checkpoint kinase.
Sunday, August 30, 2015
Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients
Inder Singh, Mohammed Faruq, Madakasira Vasantha Padma, Vinay Goyal, Madhuri Behari, Ashoo Grover, Mitali Mukerji, Achal K. Srivastava, Mitochondrion, Available online 29 August 2015, ISSN 1567-7249, http://dx.doi.org/10.1016/j.mito.2015.08.003.
Overall, our study identifies the functionally important variations and mitochondrial lineage of Indian FRDA cases and, that underscores the importance of studying the role of mitochondrial genome variations in FRDA.
Overall, our study identifies the functionally important variations and mitochondrial lineage of Indian FRDA cases and, that underscores the importance of studying the role of mitochondrial genome variations in FRDA.
Thursday, August 27, 2015
Stable isotopes and LC–MS for monitoring metabolic disturbances in Friedreich's ataxia platelets
Andrew J Worth, Sankha S Basu, Eric C Deutsch, Wei-Ting Hwang, Nathaniel W Snyder, David R Lynch, and Ian A Blair, Bioanalysis, Vol. 7, No. 15 , Pages 1843-1855 (doi: 10.4155/bio.15.118)
Platelets can be used as a surrogate tissue for in vivo biomarker studies to monitor new therapeutic approaches for the treatment of FRDA.
Platelets can be used as a surrogate tissue for in vivo biomarker studies to monitor new therapeutic approaches for the treatment of FRDA.
MDA Awards $10 million in new Research Grants
CHICAGO, Aug. 26, 2015 /PRNewswire/ -- Powered by its big-picture perspective to accelerate treatments and cures across the broad spectrum of neuromuscular diseases, MDA today announced the award of $10 million in new research grants to the world's brightest scientists conducting leading-edge discovery for muscular dystrophy, ALS and related muscle-debilitating diseases.
Among the new MDA research grants: Expanding therapeutic possibilities in Friedreich's ataxia (FA): Scientists at the University of Oklahoma Health Sciences Center will work to find the optimal HDAC inhibitor and dose for increasing production of the frataxin protein, which is deficient in FA and, in parallel, test an alternative HDAC inhibitor that may prove more effective than others tested to date.
Among the new MDA research grants: Expanding therapeutic possibilities in Friedreich's ataxia (FA): Scientists at the University of Oklahoma Health Sciences Center will work to find the optimal HDAC inhibitor and dose for increasing production of the frataxin protein, which is deficient in FA and, in parallel, test an alternative HDAC inhibitor that may prove more effective than others tested to date.
Wednesday, August 26, 2015
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial
Silvia Romano, Giulia Coarelli, Christian Marcotulli, Luca Leonardi, Francesca Piccolo, Maria Spadaro, Marina Frontali, Michela Ferraldeschi, Maria Chiara Vulpiani, Federica Ponzelli, Marco Salvetti, Francesco Orzi, Antonio Petrucci, Nicola Vanacore, Carlo Casali, Giovanni Ristori, The Lancet Neurology, Available online 25 August 2015, ISSN 1474-4422, http://dx.doi.org/10.1016/S1474-4422(15)00201-X.
Previous study in patients with cerebellar ataxias of different causes showed significant benefit of riluzole after 8 weeks. The study aimed to confirm these results in patients with spinocerebellar ataxia or Friedreich's ataxia in a 1-year trial.
This trial lends support to the idea that riluzole might be efficacious in the treatment of patients with cerebellar ataxia, in addition to its present indication for amyotrophic lateral sclerosis. The drug effect seems to be unaffected by adjustment for the different clinical forms of ataxia. The findings suggest that riluzole could eventually be used in clinical practice, but confirmatory studies on larger and disease-specific populations, for a longer observation period are needed.
Previous study in patients with cerebellar ataxias of different causes showed significant benefit of riluzole after 8 weeks. The study aimed to confirm these results in patients with spinocerebellar ataxia or Friedreich's ataxia in a 1-year trial.
This trial lends support to the idea that riluzole might be efficacious in the treatment of patients with cerebellar ataxia, in addition to its present indication for amyotrophic lateral sclerosis. The drug effect seems to be unaffected by adjustment for the different clinical forms of ataxia. The findings suggest that riluzole could eventually be used in clinical practice, but confirmatory studies on larger and disease-specific populations, for a longer observation period are needed.
Rare inherited diseases merit disease-specific trials
Alexandra Durr, The Lancet Neurology, Available online 25 August 2015, ISSN 1474-4422, http://dx.doi.org/10.1016/S1474-4422(15)00217-3.
Have Been recently presented the results the trial of riluzole, the study included patients with Friedreich's ataxia, SCA1, SCA2, SCA6, SCA8 and SCA10. Cerebellar ataxia, which include a multitude of different, rare genetic entities, are a difficult set of diseases for such studies.
The clinician eager to treat patients is left with some important questions about the design of trials for rare diseases. Is it appropriate to mix different forms of ataxias in a therapeutic trial?
To take into account the large variety of known and unknown confounding factors in disease progression and treatment response, trials in rare inherited diseases should: be disease-specific, and account for genetic forms of disease.
Have Been recently presented the results the trial of riluzole, the study included patients with Friedreich's ataxia, SCA1, SCA2, SCA6, SCA8 and SCA10. Cerebellar ataxia, which include a multitude of different, rare genetic entities, are a difficult set of diseases for such studies.
The clinician eager to treat patients is left with some important questions about the design of trials for rare diseases. Is it appropriate to mix different forms of ataxias in a therapeutic trial?
To take into account the large variety of known and unknown confounding factors in disease progression and treatment response, trials in rare inherited diseases should: be disease-specific, and account for genetic forms of disease.
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. We propose the creation of a registry of drugs offered on a compassionate use basis; further transparency would allow such programmes to be evaluated and direct patients to sources of treatment.
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. We propose the creation of a registry of drugs offered on a compassionate use basis; further transparency would allow such programmes to be evaluated and direct patients to sources of treatment.
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