Inventor(s): WILSON ROBERT B [US]; COTTICELLI MARIA GRAZIA [US]; BENEDETTI PHILLIP A [US]; SMITH AMOS [US]; MELVIN JASON E [US]; HURYN DONNA M [US]
Applicant(s): UNIV PENNSYLVANIA [US]
Original document: WO2010068767 (A1) ― 2010-06-17
Wednesday, August 12, 2015
PATENT: SMALL MOLECULE ACTIVATORS OF MITOCHONDRIAL FUNCTION
NEW PATENT: SMALL MOLECULE ACTIVATORS OF MITOCHONDRIAL FUNCTION.
Inventor(s): WILSON ROBERT B [US]; COTTICELLI MARIA GRAZIA [US]; BENEDETTI PHILLIP A [US]; SMITH AMOS [US]; MELVIN JASON E [US]; HURYN DONNA M [US]
Applicant(s): UNIV PENNSYLVANIA [US]
Original document: WO2010068767 (A1) ― 2010-06-17
Inventor(s): WILSON ROBERT B [US]; COTTICELLI MARIA GRAZIA [US]; BENEDETTI PHILLIP A [US]; SMITH AMOS [US]; MELVIN JASON E [US]; HURYN DONNA M [US]
Applicant(s): UNIV PENNSYLVANIA [US]
Original document: WO2010068767 (A1) ― 2010-06-17
Saturday, August 8, 2015
Key Patent Granted For AAVLife’s Gene-Therapy Program to Treat Cardiomyopathy in Friedreich’s Ataxia
Key Patent Granted For AAVLife’s Gene-Therapy Program to Treat Cardiomyopathy in Friedreich’s Ataxia. BUSINESS WIRE, August 05, 2015
The patent broadly protects a promising method for treating cardiomyopathy by using an adeno-associated virus (AAV) vector to carry into cells a gene expressing the protein frataxin. The patent will run until 2033 or longer in the event of a successful application for an extension. Corresponding patent applications are pending in major markets globally.
The patent broadly protects a promising method for treating cardiomyopathy by using an adeno-associated virus (AAV) vector to carry into cells a gene expressing the protein frataxin. The patent will run until 2033 or longer in the event of a successful application for an extension. Corresponding patent applications are pending in major markets globally.
Monday, August 3, 2015
The quality of economic evaluations of ultra-orphan drugs in Europe – a systematic review
The quality of economic evaluations of ultra-orphan drugs in Europe – a systematic review. Y. Schuller, C. E. M. Hollak and M. Biegstraaten; Orphanet Journal of Rare Diseases 2015, 10:92 doi:10.1186/s13023-015-0305-y
OPEN ACCESS
In the European Union (EU), a disease is considered ‘orphan’ if it is a life-threatening or seriously debilitating disorder that affects fewer than 1 per 2 000. An orphan disease is defined in the EU as a disorder affecting less than 1 in 2 000 individuals. The concept of ultra-orphan has been proposed for diseases with a prevalence of less than 1:50 000. According to this classification Friedreich's Ataxia is within the group of the "orphan", although is close to the upper border of the "ultra-orphan", so share with the "ultra-orphan" many of the problems for the development of drugs and therapies.
OPEN ACCESS
In the European Union (EU), a disease is considered ‘orphan’ if it is a life-threatening or seriously debilitating disorder that affects fewer than 1 per 2 000. An orphan disease is defined in the EU as a disorder affecting less than 1 in 2 000 individuals. The concept of ultra-orphan has been proposed for diseases with a prevalence of less than 1:50 000. According to this classification Friedreich's Ataxia is within the group of the "orphan", although is close to the upper border of the "ultra-orphan", so share with the "ultra-orphan" many of the problems for the development of drugs and therapies.
Friday, July 31, 2015
Friedreich Ataxia in Classical Galactosaemia
Friedreich Ataxia in Classical Galactosaemia. Siobhán Neville, Siobhan O’Sullivan, Bronagh Sweeney, Bryan Lynch, Donncha Hanrahan, Ina Knerr, Sally Ann Lynch, Ellen Crushell; JIMD Reports, 29 Jul 2015, DOI 10.1007/8904_2015_477
Both conditions are known to occur with increased frequency amongst the Irish Traveller population. Neurological symptoms are easily attributed to an underlying diagnosis of galactosaemia. It is important to consider a diagnosis of Friedreich ataxia in a child from the Irish Traveller population with galactosaemia who presents with ataxia or cardiomyopathy.
Both conditions are known to occur with increased frequency amongst the Irish Traveller population. Neurological symptoms are easily attributed to an underlying diagnosis of galactosaemia. It is important to consider a diagnosis of Friedreich ataxia in a child from the Irish Traveller population with galactosaemia who presents with ataxia or cardiomyopathy.
Friedreich’s Ataxia Research Collaboration Announced
Friedreich’s Ataxia Research Collaboration Announced. Medical Sciences Division, University of Oxford, 30 July 2015.
A new collaborative drug discovery project in Friedreich’s Ataxia (FA) between the University of Oxford, Ataxia UK, Pfizer Inc, UCL and Imperial College London was recently announced.
The programme will initially run for three years and aims to develop a potential new medicine or therapy for Friedreich’s ataxia that, if successful, may be tested in clinical trials.
A new collaborative drug discovery project in Friedreich’s Ataxia (FA) between the University of Oxford, Ataxia UK, Pfizer Inc, UCL and Imperial College London was recently announced.
The programme will initially run for three years and aims to develop a potential new medicine or therapy for Friedreich’s ataxia that, if successful, may be tested in clinical trials.
Tuesday, July 28, 2015
Les médicaments orphelins : des opportunités méconnues pour les développeurs en Europe
Les médicaments orphelins : des opportunités méconnues pour les développeurs en Europe. Orphan Drugs: Underrated Opportunities for The Developers in Europe. Yves Tillet et Anne-Catherine Maillols-Perroy; Thérapie 2015 Juillet-Août; 70 (4): 351–357
Key words: Orphan Drug Act / regulation 141/2000/EC / implementing regulation 847/2000 / Commission communication (2003/C 178/02) / orphan medical product / 10 year market exclusivity / similar medicinal product / significant benefit / clinical superiority / assumption of significant benefit
Key words: Orphan Drug Act / regulation 141/2000/EC / implementing regulation 847/2000 / Commission communication (2003/C 178/02) / orphan medical product / 10 year market exclusivity / similar medicinal product / significant benefit / clinical superiority / assumption of significant benefit
Sunday, July 26, 2015
Mitigation of Myocardial Ischemia-Reperfusion Injury via HIF-1α-Frataxin Signalling.
Mitigation of Myocardial Ischemia-Reperfusion Injury via HIF-1α-Frataxin Signalling. Nelson Amaral, Darlington Okonko; American Journal of Physiology - Heart and Circulatory Physiology Published 25 July 2015 Vol. no. , DOI: 10.1152/ajpheart.00553.2015
Resources, challenges and way forward in rare mitochondrial diseases research.
Resources, challenges and way forward in rare mitochondrial diseases research. Rajput NK, Singh V and Bhardwaj A. [v1; ref status: indexed, http://f1000r.es/54x] F1000Research 2015, 4:70 (doi: 10.12688/f1000research.6208.1) OPEN ACCESS
Rare diseases affect over 300 million people globally, however the true burden of these diseases on human health remains to be determined. Rare genetic variants are disease causing and lead to a personalized disease manifestation. Thus, it is time to review the disease definition considering both the molecular mechanisms involved and environmental factors leading to differential phenotypes. This will allow for a better understanding of both rare and common diseases. On the other end, a paradigm shift in drug discovery and development is also needed to translate the effort in understanding disease mechanisms to identify potential therapeutic routes. Newer models and platforms that allow involvement of patient communities in research and development is also expected to offer solutions to patients suffering from rare diseases who may then benefit from appropriate treatment options. Community collaborative approaches for research and funding offer an unprecedented opportunity for making new discoveries and translating to therapeutic interventions.
Rare diseases affect over 300 million people globally, however the true burden of these diseases on human health remains to be determined. Rare genetic variants are disease causing and lead to a personalized disease manifestation. Thus, it is time to review the disease definition considering both the molecular mechanisms involved and environmental factors leading to differential phenotypes. This will allow for a better understanding of both rare and common diseases. On the other end, a paradigm shift in drug discovery and development is also needed to translate the effort in understanding disease mechanisms to identify potential therapeutic routes. Newer models and platforms that allow involvement of patient communities in research and development is also expected to offer solutions to patients suffering from rare diseases who may then benefit from appropriate treatment options. Community collaborative approaches for research and funding offer an unprecedented opportunity for making new discoveries and translating to therapeutic interventions.
Thursday, July 23, 2015
L'atàxia de Friedreich: estudi del dèficit de frataxina en miòcits cardíacs
Friedreich's ataxia: a study of frataxin deficiency in cardiac myocytes. Author: Èlia Obis Monné, Director: Jordi Tamarit Sumalla, Joaquim Ros Salvador; Thesis, date of defense:2014-12-10, Universitat de Lleida. Departament de Ciències Mèdiques Bàsiques. Tesis Doctorals en Xarxa (Universitat de Lleida)
Full text files in this thesis will be available from 2015-12-10
Frataxin deficiency in cardiac myocytes causes an alteration of the mitochondrial network and oxidative stress. Furthermore, cardiac myocytes undergo a change in the metabolic profile and accumulate large amounts of fatty acids in lipid droplets.
More information.....
Full text files in this thesis will be available from 2015-12-10
Frataxin deficiency in cardiac myocytes causes an alteration of the mitochondrial network and oxidative stress. Furthermore, cardiac myocytes undergo a change in the metabolic profile and accumulate large amounts of fatty acids in lipid droplets.
More information.....
RNA-based drugs, very promising research (RaNA Therapeutics)
RNA-based drugs, very promising research (RaNA Therapeutics). EXOME News, Ben Fidler July 23rd, 2015 and The Boston Globe (Bussines) Globe Correspondent
RaNA Therapeutics, a Cambridge-based drug startup, announced today will help fund the preclinical work needed to get at least two programs into human trials in 2017. So far the company has touted potential therapies for spinal muscular atrophy and Friedreich’s Ataxia. These therapies are RNA-based drugs meant to switch back on genes that are silenced in certain diseases, and thus don’t produce critical proteins (like spinal motor neuron in the case of people with SMA, and frataxin for those with Friedreich’s). (EXOME)
The company said Thursday that it raised the funds from a group of new and existing investors led by MRL Ventures, an arm of the drug giant Merck, and the Baupost Group. RaNA plans to have one or two treatments for spinal muscular atrophy and Friedreich’s ataxia in clinical trials by 2017. (The Boston Globe)
Read more...
RaNA Therapeutics, a Cambridge-based drug startup, announced today will help fund the preclinical work needed to get at least two programs into human trials in 2017. So far the company has touted potential therapies for spinal muscular atrophy and Friedreich’s Ataxia. These therapies are RNA-based drugs meant to switch back on genes that are silenced in certain diseases, and thus don’t produce critical proteins (like spinal motor neuron in the case of people with SMA, and frataxin for those with Friedreich’s). (EXOME)
The company said Thursday that it raised the funds from a group of new and existing investors led by MRL Ventures, an arm of the drug giant Merck, and the Baupost Group. RaNA plans to have one or two treatments for spinal muscular atrophy and Friedreich’s ataxia in clinical trials by 2017. (The Boston Globe)
Read more...
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