SOUTH PLAINFIELD, N.J., Jan. 13, 2020 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT) today is providing a corporate update that will be presented at the 38th Annual J.P. Morgan Healthcare Conference on Wednesday, January 15th at 8:30 a.m.
PTC-FA gene therapy for Friedreich ataxia is progressing and is anticipated to enter the clinic in 3Q 2020.
In order to control and accelerate its gene therapy platform, PTC secured a 15-year lease on ~185,000 sq. ft. of space, which includes a state-of-the-art biologics production facility with supporting research and operations buildings in NJ. PTC expects manufacturing to begin at this facility in 2020.
Tuesday, January 14, 2020
MDA Awards Venture Philanthropy Funding of More Than $1M to AavantiBio to Develop Gene-Targeting Therapy for Friedreich's Ataxia
NEW YORK and GAINESVILLE, Fla., Jan. 13, 2020 /PRNewswire/ -- The Muscular Dystrophy Association (MDA) and AavantiBio, a biotechnology company developing a gene-targeting therapy for Friedreich's ataxia (FA), today announced the award of MDA Venture Philanthropy (MVP) funding totaling $1,076,232 to advance AavantiBio's phase 2 clinical trial of a gene-replacement therapy for the disease.
MDA's investment will help accelerate AavantiBio's mission and begin production of the clinical gene vector for its therapy program. Clinical trials are expected to begin in 2020.
MDA's investment will help accelerate AavantiBio's mission and begin production of the clinical gene vector for its therapy program. Clinical trials are expected to begin in 2020.
Monday, January 13, 2020
Mammalian iron–sulfur cluster biogenesis: Recent insights into the roles of frataxin, acyl carrier protein and ATPase-mediated transfer to recipient proteins
Nunziata Maio, Anshika Jain, Tracey A. Rouault; Current Opinion in Chemical Biology, Volume 55, 2020, Pages 34-44, doi:10.1016/j.cbpa.2019.11.014.
Highlights:
Iron–sulfur (Fe–S) clusters (ISCs) are metal cofactors involved in multiple, essential cellular processes.
Defined pathways assemble ISCs de novo in mammalian mitochondria and cytosol.
The acyl carrier protein is a component of the core ISC machinery.
Frataxin is an allosteric regulator that accelerates sulfur transfer from NFS1 to ISCU.
A chaperone/cochaperone system facilitates cluster transfer downstream of ISCU.
Insights into the role of FXN in FeeS biogenesis have arisen from recent structural and biochemical studies, an important future direction will be to search for drugs that can mimic FXN activity to treat patients with Friedreich’s ataxia, a disease caused by low FXN expression. The source of iron for Fe-S biogenesis remains unsettled, and future work will likely focus on how iron is delivered to the Fe-S biogenesis machinery. Much progress has been made, but many basic questions remain unanswered in the complex process of mammalian Fe-S biogenesis
Highlights:
Iron–sulfur (Fe–S) clusters (ISCs) are metal cofactors involved in multiple, essential cellular processes.
Defined pathways assemble ISCs de novo in mammalian mitochondria and cytosol.
The acyl carrier protein is a component of the core ISC machinery.
Frataxin is an allosteric regulator that accelerates sulfur transfer from NFS1 to ISCU.
A chaperone/cochaperone system facilitates cluster transfer downstream of ISCU.
Insights into the role of FXN in FeeS biogenesis have arisen from recent structural and biochemical studies, an important future direction will be to search for drugs that can mimic FXN activity to treat patients with Friedreich’s ataxia, a disease caused by low FXN expression. The source of iron for Fe-S biogenesis remains unsettled, and future work will likely focus on how iron is delivered to the Fe-S biogenesis machinery. Much progress has been made, but many basic questions remain unanswered in the complex process of mammalian Fe-S biogenesis
Friday, January 10, 2020
Retrotope Expands its Drug Pipeline with the First Dosing of RT001 in patients with Friedreich’s ataxia (FA)
LOS ALTOS, Calif., Jan. 09, 2020 (GLOBE NEWSWIRE) -- Retrotope announced today that it has dosed its first patient in a Phase 2/3 clinical trial of RT001 in Friedreich’s ataxia, the most common of the inherited ataxias. RT001, a stabilized fatty acid drug, has been shown to reduce lipid peroxidation leading to cell death in patients across a wide swath of degenerative diseases, including FA.
“This Phase 2/3 clinical trial is an important milestone in the development pathway of RT001” commented Peter G Milner, MD of Retrotope. “We believe the CPET is a very sensitive probe of the mitochondrial function and stamina of patients with this disease who suffer from profound fatigue due to mitochondrial neuropathy, myopathy and cardiomyopathy. FDA has agreed with us that CPET may be a primary endpoint in a marketing approval study, and will be evaluated for approval with other secondary, supportive efficacy measures and validated scales important to patient function.”
“This Phase 2/3 clinical trial is an important milestone in the development pathway of RT001” commented Peter G Milner, MD of Retrotope. “We believe the CPET is a very sensitive probe of the mitochondrial function and stamina of patients with this disease who suffer from profound fatigue due to mitochondrial neuropathy, myopathy and cardiomyopathy. FDA has agreed with us that CPET may be a primary endpoint in a marketing approval study, and will be evaluated for approval with other secondary, supportive efficacy measures and validated scales important to patient function.”
Thursday, January 9, 2020
Minoryx Therapeutics receives US FDA fast-track designation for leriglitazone in the treatment of X-ALD
Minoryx Therapeutics. Press Releases. Mataró, Barcelona, Spain and Charleroi, Belgium, January 9, 2020 – Minoryx Therapeutics
Leriglitazone (MIN-102), a novel, brain penetrant, orally bioavailable and selective PPARγ agonist, is currently in late-stage development for treatment of severe orphan CNS disorders, including X-ALD and Friedreich’s Ataxia. It previously received Orphan Drug Designation from EMA and FDA for both conditions
Leriglitazone (MIN-102), a novel, brain penetrant, orally bioavailable and selective PPARγ agonist, is currently in late-stage development for treatment of severe orphan CNS disorders, including X-ALD and Friedreich’s Ataxia. It previously received Orphan Drug Designation from EMA and FDA for both conditions
Large-scale contractions of Friedreich’s ataxia GAA repeats in yeast occur during DNA replication due to their triplex-forming ability
Alexandra N. Khristich, Jillian F. Armenia, Robert M. Matera, Anna A. Kolchinski, and Sergei M. Mirkin; PNAS first published January 7, 2020 Doi:10.1073/pnas.1913416117
Expansions of GAA repeats cause a severe hereditary neurodegenerative disease, Friedreich’s ataxia. In this study, we characterized the mechanisms of GAA repeat contractions in a yeast experimental system. These mechanisms might, in the long run, aid development of a therapy for this currently incurable disease. We show that GAA repeats contract during DNA replication, which can explain the high level of somatic instability of this repeat in patient tissues. We also provided evidence that a triple-stranded DNA structure is at the heart of GAA repeat instability. This discovery highlights the role of triplex DNA in genome instability and human disease.
Expansions of GAA repeats cause a severe hereditary neurodegenerative disease, Friedreich’s ataxia. In this study, we characterized the mechanisms of GAA repeat contractions in a yeast experimental system. These mechanisms might, in the long run, aid development of a therapy for this currently incurable disease. We show that GAA repeats contract during DNA replication, which can explain the high level of somatic instability of this repeat in patient tissues. We also provided evidence that a triple-stranded DNA structure is at the heart of GAA repeat instability. This discovery highlights the role of triplex DNA in genome instability and human disease.
Wednesday, January 8, 2020
Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE‐FRDA study
Louisa P. Selvadurai Louise A. Corben Martin B. Delatycki Elsdon Storey Gary F. Egan Nellie Georgiou‐Karistianis Ian H. Harding. Hum Brain Mapp. 2020; 1– 14. doi:10.1002/hbm.24921
For the first time, we examined the relative sensitivity and relationship between multiple white matter indices in Friedreich ataxia to more richly characterize disease expression and infer possible mechanisms underlying the observed white matter abnormalities.
Multiple mechanisms likely underpin white matter abnormalities in Friedreich ataxia, with differential impacts in cerebellar and cerebral pathways.
For the first time, we examined the relative sensitivity and relationship between multiple white matter indices in Friedreich ataxia to more richly characterize disease expression and infer possible mechanisms underlying the observed white matter abnormalities.
Multiple mechanisms likely underpin white matter abnormalities in Friedreich ataxia, with differential impacts in cerebellar and cerebral pathways.
Tuesday, January 7, 2020
Heart-In-A-Jar Platform Humanizing Preclinical Research
Bio-IT World.By Deborah Borfitz, January 6, 2020.
The pumping capability was one of the more compelling features of the three-dimensional (3-D) organ construct for AstraZeneca, which is looking to screen drug candidates for treating heart failure with preserved ejection fraction—a common condition especially among the elderly and in women—with no effective therapy available, says Li. Novoheart’s cardiac tissue engineering technology, known as the MyHeart Platform, also held appeal for Pfizer, which has used it to model both electrical and mechanical defects of the heart in patients with the neurodegenerative disease Friedreich’s ataxia (FRDA).
In a study published earlier this year in Stem Cell Research & Therapy, the FRDA models demonstrated utility in evaluating novel therapeutics and disease progression. Study results highlighted the potential of small molecules or gene therapy for suppressing or reversing the cardiac symptoms of FRDA.
The pumping capability was one of the more compelling features of the three-dimensional (3-D) organ construct for AstraZeneca, which is looking to screen drug candidates for treating heart failure with preserved ejection fraction—a common condition especially among the elderly and in women—with no effective therapy available, says Li. Novoheart’s cardiac tissue engineering technology, known as the MyHeart Platform, also held appeal for Pfizer, which has used it to model both electrical and mechanical defects of the heart in patients with the neurodegenerative disease Friedreich’s ataxia (FRDA).
In a study published earlier this year in Stem Cell Research & Therapy, the FRDA models demonstrated utility in evaluating novel therapeutics and disease progression. Study results highlighted the potential of small molecules or gene therapy for suppressing or reversing the cardiac symptoms of FRDA.
Monday, January 6, 2020
Researchers suggest a pathway to reverse the genetic defect of Friedreich's ataxia
Alexandra N. Khristich el al., "Large-scale contractions of Friedreich's ataxia GAA repeats in yeast occur during DNA replication due to their triplex-forming ability," PNAS (2019). Doi:10.1073/pnas.1913416117
"While these results were uncovered in a yeast model, they do provide us with a clue into the mechanism of DNA repeat instability in Friedreich's ataxia," said Alexandra Khristich, graduate student in Mirkin's lab and first author of the study. "I hope that our discovery would become a starting point for the potential development of therapeutic strategies that tip the balance toward DNA repeat contraction in patient tissues"
"While these results were uncovered in a yeast model, they do provide us with a clue into the mechanism of DNA repeat instability in Friedreich's ataxia," said Alexandra Khristich, graduate student in Mirkin's lab and first author of the study. "I hope that our discovery would become a starting point for the potential development of therapeutic strategies that tip the balance toward DNA repeat contraction in patient tissues"
Friday, January 3, 2020
Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA
Rosita Shishegar, Ian H. Harding, Louise A. Corben, Martin B. Delatycki, Elsdon Storey, Gary F. Egan, Nellie Georgiou-Karistianis; Cerebellum (2020). doi:10.1007/s12311-019-01094-6
These findings provide the first evidence of increased longitudinal activation over time in the cerebral cortex in FRDA, compared with controls, despite comparable working memory performance. This finding represents a possible compensatory response in the ventral attention network to help sustain working memory performance in individuals with FRDA.
These findings provide the first evidence of increased longitudinal activation over time in the cerebral cortex in FRDA, compared with controls, despite comparable working memory performance. This finding represents a possible compensatory response in the ventral attention network to help sustain working memory performance in individuals with FRDA.
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