SOUTH PLAINFIELD, N.J., Aug. 23, 2018 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT), today announced that it has successfully completed the acquisition of Agilis Biotherapeutics, Inc., a private biotechnology company focused on the advancement of innovative gene therapy programs for rare genetic disorders that affect the central nervous system (CNS).
The acquisition also includes gene therapy programs in development, GT-FA, GT-AS, and GT-RLN, for Friedreich Ataxia, Angelman Syndrome and Cognitive Disorders associated with several neurodevelopmental and neurodegenerative disorders, respectively.
Thursday, August 23, 2018
Longitudinal Diffusion Tensor Imaging in the brain in Friedreich’s Ataxia: follow-up at 12 and 24 months
Pierre-Gilles Henry, James Joers, Dinesh Deelchand, Diane Hutter, and Christophe Lenglet; International Society for Magnetic Resonance in Medicine, (Abstract #3730) 16-21 June 2018
We report 12-month and 24-month longitudinal diffusion tensor imaging (DTI) data in the brain of subjects with Friedreich’s ataxia (FRDA). Significant longitudinal changes were observed in several brain areas (including the corpus callosum, internal capsule and superior corona radiata) in a group of 13 patients over 24 months. Our data suggest that diffusion MRI of the brain could be useful to better understand the impact of FRDA on brain microstructure and connectivity, and to assess the effect of potential treatments on neurodegeneration in upcoming clinical trials in FRDA.
We report 12-month and 24-month longitudinal diffusion tensor imaging (DTI) data in the brain of subjects with Friedreich’s ataxia (FRDA). Significant longitudinal changes were observed in several brain areas (including the corpus callosum, internal capsule and superior corona radiata) in a group of 13 patients over 24 months. Our data suggest that diffusion MRI of the brain could be useful to better understand the impact of FRDA on brain microstructure and connectivity, and to assess the effect of potential treatments on neurodegeneration in upcoming clinical trials in FRDA.
Noninvasive brain stimulation may help treat symptoms of rare movement disorders
August 22, 2018, American Academy of Neurology.
Electrical stimulation of the brain and spinal cord may help treat the symptoms of rare movement disorders called neurodegenerative ataxias, according to a study published in the August 22, 2018, online issue of Neurology, the medical journal of the American Academy of Neurology. There are several types of these disorders, which can be hereditary or occur randomly, including spinocerebellar ataxia, multiple system atrophy and Friedreich's ataxia.
Electrical stimulation of the brain and spinal cord may help treat the symptoms of rare movement disorders called neurodegenerative ataxias, according to a study published in the August 22, 2018, online issue of Neurology, the medical journal of the American Academy of Neurology. There are several types of these disorders, which can be hereditary or occur randomly, including spinocerebellar ataxia, multiple system atrophy and Friedreich's ataxia.
Public summary of opinion on orphan designation: Omaveloxolone for treatment of Friedreich's ataxia
EMA/395368/2018, 16 August 2018
On 27 June 2018, orphan designation (EU/3/18/2037) was granted by the European Commission to Dr Stefan Blesse, Germany, for omaveloxolone (also known as RTA 408) for the treatment of Friedreich’s ataxia.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 24 May 2018 recommending the granting of this designation.
On 27 June 2018, orphan designation (EU/3/18/2037) was granted by the European Commission to Dr Stefan Blesse, Germany, for omaveloxolone (also known as RTA 408) for the treatment of Friedreich’s ataxia.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 24 May 2018 recommending the granting of this designation.
Jupiter Orphan Therapeutics Announces Favorable Data Which Expands JOTROL's Applications to the Estimated $5 Billion Mitochondrial Rare Disease Market
JUPITER, Fla., Aug. 22, 2018 /PRNewswire/ -- Jupiter Orphan Therapeutics, Inc. ("JOT"), Jupiter, FL, today announced that it has received new data regarding an increase in mitochondrial biogenesis in liver and brain from a recently performed study in a frequently studied Alzheimer's disease animal model, the triple transgenic (APPsw / PS1M146V / TauP301L) mouse.
Murdoch Children's Research Institute, a JOT partner, has conducted an open label study showing that high dose of resveratrol (not JOTROL), with associated GI-side effects, had significant positive impact in 4 vital endpoints. Target, for this indication, is to reproduce this study with JOTROL and reproduce the same positive results without side effects.
Murdoch Children's Research Institute, a JOT partner, has conducted an open label study showing that high dose of resveratrol (not JOTROL), with associated GI-side effects, had significant positive impact in 4 vital endpoints. Target, for this indication, is to reproduce this study with JOTROL and reproduce the same positive results without side effects.
Wednesday, August 22, 2018
Test-retest reliability of an instrumented electronic walkway system (GAITRite) for the measurement of spatio-temporal gait parameters in young patients with Friedreich’s ataxia
Bastien Roche, Anne-Laure Simon, Sophie Guilmin-Crépon, Priscilla Boizeau, Béatrice Andriss, Corinne Alberti, Ana Presedo, Brice Ilharreborde, Isabelle Husson, Gait & Posture, 2018, doi:10.1016/j.gaitpost.2018.08.017.
The GAITRite system allows feasible and reliable measurements of gait parameters in young patients with FRDA. Lower reliability found for the weakest parameters was attributed to the software automatic errors and the ankle laxity noted in every patient.
The GAITRite system allows feasible and reliable measurements of gait parameters in young patients with FRDA. Lower reliability found for the weakest parameters was attributed to the software automatic errors and the ankle laxity noted in every patient.
Investigating Molecular Mechanisms Underlying Mild Phenotype in Friedreich Ataxia Patients with G130V Missense Mutation
Clark, Elisia. University of Pennsylvania, ProQuest Dissertations Publishing, 2018. 10748306. A DISSERTATION in Pharmacology Presented to the Faculties of the University of Pennsylvania in Partial Ful fillment of the Requirements for the Degree of Doctor of Philosophy.
Tuesday, August 14, 2018
Vitamin E hydroquinone is an endogenous regulator of ferroptosis via redox control of 15-lipoxygenase
Hinman A, Holst CR, Latham JC, Bruegger JJ, Ulas G, McCusker KP, et al. (2018) Vitamin E hydroquinone is an endogenous regulator of ferroptosis via redox control of 15-lipoxygenase. PLoS ONE 13(8): e0201369. https://doi.org/10.1371/journal.pone.0201369
Genetic basis of hypertrophic cardiomyopathy in children
tefan Rupp, Moataz Felimban, Anne Schänzer, Dietmar Schranz, Christoph Marschall, Martin Zenker, Thushiha Logeswaran, Christoph Neuhäuser, Josef Thul, Christian Jux, Andreas Hahn; Clin Res Cardiol (2018). doi:10.1007/s00392-018-1354-8
42 patients with the diagnoses of HCM made before age 18 years were treated in our center from 2000 to 2016. Genetic analysis was performed in 36 subjects, a genetic defect was detected in 29 (78%) patients. 15 individuals (42%) had pathogenic variants in genes encoding sarcomere proteins, and 5 (14%) in genes coding for components of the RAS/MAPK signaling pathway. 4 subjects (11%) had mutations in the GAA gene (Pompe disease), and 3 (8%) had Frataxin repeat expansions (Friedreich’s ataxia). One patient each showed a mutation in BAG3 and LMNA. Discussion of unsolved HCM cases after performing next-generation sequencing (28 genes) in an interdisciplinary board unraveled the genetic cause in 9 subjects (25%).
A definite genetic diagnosis can be reached in nearly 80% with HCM of childhood onset. Next-generation sequencing in conjunction with a multidisciplinary cooperation can enhance the diagnostic yield substantially. This may be important for risk stratification, treatment planning and genetic counseling.
42 patients with the diagnoses of HCM made before age 18 years were treated in our center from 2000 to 2016. Genetic analysis was performed in 36 subjects, a genetic defect was detected in 29 (78%) patients. 15 individuals (42%) had pathogenic variants in genes encoding sarcomere proteins, and 5 (14%) in genes coding for components of the RAS/MAPK signaling pathway. 4 subjects (11%) had mutations in the GAA gene (Pompe disease), and 3 (8%) had Frataxin repeat expansions (Friedreich’s ataxia). One patient each showed a mutation in BAG3 and LMNA. Discussion of unsolved HCM cases after performing next-generation sequencing (28 genes) in an interdisciplinary board unraveled the genetic cause in 9 subjects (25%).
A definite genetic diagnosis can be reached in nearly 80% with HCM of childhood onset. Next-generation sequencing in conjunction with a multidisciplinary cooperation can enhance the diagnostic yield substantially. This may be important for risk stratification, treatment planning and genetic counseling.
Monday, August 13, 2018
Nonataxia symptoms in Friedreich Ataxia. Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
Kathrin Reetz, Imis Dogan, Christian Hohenfeld, Claire Didszun, Paola Giunti, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Jörg B. Schulz, the EFACTS Study Group, Neurology Aug 2018, DOI: 10.1212/WNL.0000000000006121
The most frequent clinical features beyond afferent ataxia were abnormal eye movements (90.5%), scoliosis (73.5%), deformities of the feet (58.8%), urinary dysfunction (42.8%), cardiomyopathy and cardiac hypertrophy (40.3%), followed by decreased visual acuity (36.8%); less frequent features were, among others, depression (14.1%) and diabetes (7.1%). Most of these features were more common in the typical-onset group compared to the late-onset group. Logistic regression models for the presence of these symptoms demonstrated the predictive value of GAA repeat length on the shorter allele and age at onset, but also severity of ataxia signs, sex, and presence of neonatal problems.
The most frequent clinical features beyond afferent ataxia were abnormal eye movements (90.5%), scoliosis (73.5%), deformities of the feet (58.8%), urinary dysfunction (42.8%), cardiomyopathy and cardiac hypertrophy (40.3%), followed by decreased visual acuity (36.8%); less frequent features were, among others, depression (14.1%) and diabetes (7.1%). Most of these features were more common in the typical-onset group compared to the late-onset group. Logistic regression models for the presence of these symptoms demonstrated the predictive value of GAA repeat length on the shorter allele and age at onset, but also severity of ataxia signs, sex, and presence of neonatal problems.
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