DOWNINGTOWN, Pa. & CAMBRIDGE, Mass.--(BUSINESS WIRE), January 19, 2016
The two year award will be for the Evaluation of CAT-4001 in Frataxin-deficient mouse models and dorsal root ganglia neurons to enable its therapeutic development for Friedreich's ataxia. This work will be led by Dr. Andrew Nichols at Catabasis along with collaborators Dr. Mark Payne at Indiana University and Dr. Jordi Magrane at Weill Cornell College of Medicine who are expected to perform testing in the Friedreich’s ataxia (FA) animal models.
CAT-4001 is a small molecule that activates Nrf2 and inhibits NF-kB, two pathways that have been implicated in FA and ALS. Catabasis has shown that CAT-4001 modulates the Nrf2 and NF-kB pathways in both cellular assays and animal models.
Tuesday, January 19, 2016
Monday, January 18, 2016
Pediatric cardiac transplantation for Non-dilated cardiomyopathies
Linda J. Addonizio, Progress in Pediatric Cardiology, Available online 16 January 2016, ISSN 1058-9813, doi:10.1016/j.ppedcard.2016.01.006.
In data from the Pediatric Cardiomyopathy Registry, the idiopathic and familial types comprised 74% of the total cases of hypertrophic cardiomyopathy with inborn errors of metabolism comprising 9%(34% of these had Pompe disease), malformation syndromes 9% (78% had Noonan Syndrome) and neuromuscular disorders 8% (88% Friedreich ataxia). Children with inborn errors of metabolism and malformation syndromes have significantly worse outcomes than children with either idiopathic or neuromuscular disease as an etiology for their hypertrophic cardiomyopathy.
In data from the Pediatric Cardiomyopathy Registry, the idiopathic and familial types comprised 74% of the total cases of hypertrophic cardiomyopathy with inborn errors of metabolism comprising 9%(34% of these had Pompe disease), malformation syndromes 9% (78% had Noonan Syndrome) and neuromuscular disorders 8% (88% Friedreich ataxia). Children with inborn errors of metabolism and malformation syndromes have significantly worse outcomes than children with either idiopathic or neuromuscular disease as an etiology for their hypertrophic cardiomyopathy.
Sunday, January 17, 2016
The involvement of patient organisations in rare disease research: a mixed methods study in Australia
Deirdre Pinto, Dominique Martin and Richard Chenhall. Orphanet Journal of Rare Diseases 2016, 11:2 doi:10.1186/s13023-016-0382-6
OPEN ACCESS
OPEN ACCESS
Saturday, January 16, 2016
Acquired Pulmonary Vein Isolation in a Patient with Friedreich Ataxia
Matthew M. Zipse, Ryan G. Aleong, Cardiac Electrophysiology Clinics, Available online 13 January 2016, ISSN 1877-9182, doi: 10.1016/j.ccep.2015.10.016.
This extreme example of atrial fibrosis emphasizes the need to address non-PV substrate, even if AF has only been paroxysmal, in some patients undergoing catheter ablation of AF.
This extreme example of atrial fibrosis emphasizes the need to address non-PV substrate, even if AF has only been paroxysmal, in some patients undergoing catheter ablation of AF.
Friday, January 15, 2016
Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes
Alberto R. M. Martinez, Adriana Moro, Agessandro Abrahao, Ingrid Faber, Conrado R. Borges, Thiago J. R. Rezende, Carlos R. MartinsJr, Mariana Moscovich, Renato P. Munhoz, Sandra Leistner Segal, Walter O. Arruda, Maria Luiza Saraiva-Pereira, Simone Karuta, José Luiz Pedroso, Anelyssa D’Abreu, Laura B. Jardim, Íscia Lopes-Cendes, Orlando G. Barsottini, Hélio A. G. Teive, Marcondes C. França Jr; Cerebellum. 2016 Jan 11. [Epub ahead of print] DOI:10.1007/s12311-015-0755-8
"LOFA" contradicts several of the classical clinical features of FDRA by this reaon is an important diagnostic challenge for general neurologists
Some interesting data on prevalence: In this study LOFA cases accounted for 17 % of the FDRA patients (Brasil). Other studies found 17 % of LOFA prevalence, and in other the prevalence of LOFA patients ranged from 13.5 to 25%.
"LOFA" contradicts several of the classical clinical features of FDRA by this reaon is an important diagnostic challenge for general neurologists
Some interesting data on prevalence: In this study LOFA cases accounted for 17 % of the FDRA patients (Brasil). Other studies found 17 % of LOFA prevalence, and in other the prevalence of LOFA patients ranged from 13.5 to 25%.
Thursday, January 14, 2016
Friedreich Ataxia and nephrotic syndrome: a series of two patients
Julianna E. Shinnick, Charles J. Isaacs, Sharon Vivaldi, Kimberly Schadt and David R. Lynch. BMC Neurology201616:3 DOI: 10.1186/s12883-016-0526-2
OPEN
OPEN
Wednesday, January 13, 2016
Jupiter Orphan Therapeutics, Inc. Enters into a Global Licensing Agreement with Murdoch Childrens Research Institute
Jupiter, FL (PRWEB) January 12, 2016
Jupiter Orphan Therapeutics, Inc. (JOT) today announced that they have entered into a global development and license agreement with Murdoch Childrens Research Institute, Australia’s largest child health research institute. The agreement will see the parties jointly develop an appropriate delivery system and conduct clinical trials with the purpose of getting a product approved for the treatment of Friedreich’s Ataxia. The product, JOT101, will be a novel proprietary formulation developed by JOT utilising the active ingredient of resveratrol.
Jupiter Orphan Therapeutics, Inc. (JOT) today announced that they have entered into a global development and license agreement with Murdoch Childrens Research Institute, Australia’s largest child health research institute. The agreement will see the parties jointly develop an appropriate delivery system and conduct clinical trials with the purpose of getting a product approved for the treatment of Friedreich’s Ataxia. The product, JOT101, will be a novel proprietary formulation developed by JOT utilising the active ingredient of resveratrol.
Indy drug firm Chondrial scores multi-million-dollar help from NIH Indy drug firm scores multi-million-dollar help from NIH
Indianapolis Business Journal, J.K. Wall, January 13, 2016
Chondrial, which is developing a drug for a rare condition known as Friedreich’s ataxia, will announce Wednesday that it has been accepted into a program run by the National Institutes of Health in which the NIH’s own researchers conduct tests on Chondrial’s drug and pay for outside contractors as needed.
Chondrial’s goal is to apply with the U.S. Food and Drug Administration as early April to get approval for human testing of its drug.
Chondrial, which is developing a drug for a rare condition known as Friedreich’s ataxia, will announce Wednesday that it has been accepted into a program run by the National Institutes of Health in which the NIH’s own researchers conduct tests on Chondrial’s drug and pay for outside contractors as needed.
Chondrial’s goal is to apply with the U.S. Food and Drug Administration as early April to get approval for human testing of its drug.
Saturday, January 9, 2016
Post-translational modifications in neurodegeneration
Alessandro Didonna, Federico Benetti. AIMS Biophysics, 2016, 3(1): 27-49. doi: 10.3934/biophy.2016.1.27
OPEN ACCESS
A example is Friedreich ataxia, the expanded repeat induces gene silencing through a process of heterochromatinization partially mediated by hypo-acetylation of specific lysine residues on histones around the trinucleotide repeats and on the promoter.
Acetylation is one of the most common PTMs and consists in the reversible transfer of an acetyl group from the acetyl-coenzyme A to the ɛ-amino group of the side chain of lysine residues. Two classes of enzymes catalyze this PTM: histone acetyl transferases (HATs) and histone de-acetylases (HDACs).
OPEN ACCESS
A example is Friedreich ataxia, the expanded repeat induces gene silencing through a process of heterochromatinization partially mediated by hypo-acetylation of specific lysine residues on histones around the trinucleotide repeats and on the promoter.
Acetylation is one of the most common PTMs and consists in the reversible transfer of an acetyl group from the acetyl-coenzyme A to the ɛ-amino group of the side chain of lysine residues. Two classes of enzymes catalyze this PTM: histone acetyl transferases (HATs) and histone de-acetylases (HDACs).
Thursday, January 7, 2016
Epigenetics and Triplet-Repeat Neurological Diseases
Sathiji Nageshwaran and Richard Festenstein, (Review article) Front. Neurol., 21 December 2015 doi: 10.3389/fneur.2015.00262
OPEN
Triplet-Repeat Diseases and Epigenetics: Friedreich’s Ataxia, over 98% of cases are the result of a (GAA)n triplet-repeat expansion within intron 1 of the frataxin (FXN) gene, the rest being the result of compound heterozygosity with an expansion on one allele and a point mutation or insertion on the other........ There is no evidence that frataxin itself is dysfunctional in FRDA, with no defect in mRNA half-life or splicing between patients and unaffected individuals......
OPEN
Triplet-Repeat Diseases and Epigenetics: Friedreich’s Ataxia, over 98% of cases are the result of a (GAA)n triplet-repeat expansion within intron 1 of the frataxin (FXN) gene, the rest being the result of compound heterozygosity with an expansion on one allele and a point mutation or insertion on the other........ There is no evidence that frataxin itself is dysfunctional in FRDA, with no defect in mRNA half-life or splicing between patients and unaffected individuals......
Subscribe to:
Posts (Atom)
