Lactic acidosis

Orphan designation: Sodium (4-{(E)-3-(4-fluorophenyl)-3-[4-(3-morpholin-4-yl-prop1ynyl)phenyl]allyloxy}-2-methylphenoxy)acetate Treatment of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, 21/08/2020 Withdrawn

Retrieved on: 
Thursday, April 18, 2024
Eurostat, Diagnosis, Civil service commission, Mitochondrial encephalomyopathy, Headache, DSM-IV codes, Lactic acidosis, Weakness, MELAS, Cell, Disease, Seizure, Paratriathlon, Patient, Committee, Knowledge, Mitochondrion, Regulation, EMA, IRIS, European, COMP, Sponsor, European Commission, Safety, Muscle weakness, Pain, Vomiting, Marketing, Movement, Medicine, Pharmaceutical industry

Orphan designation: Sodium (4-{(E)-3-(4-fluorophenyl)-3-[4-(3-morpholin-4-yl-prop1ynyl)phenyl]allyloxy}-2-methylphenoxy)acetate Treatment of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, 21/08/2020 Withdrawn

Key Points: 


Orphan designation: Sodium (4-{(E)-3-(4-fluorophenyl)-3-[4-(3-morpholin-4-yl-prop1ynyl)phenyl]allyloxy}-2-methylphenoxy)acetate Treatment of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, 21/08/2020 Withdrawn

Precision BioSciences Receives U.S. Patent Allowance Covering PBGENE-PMM for m.3243-Associated Mitochondrial Diseases

Retrieved on: 
Wednesday, September 27, 2023
Research, Infectious Diseases, Genetics, Clinical Trials, Biotechnology, General Health, Pharmaceutical, Health, Science, Oncology, Precision BioSciences, Patent, MELAS, CRISPR, DNA, University, Mitochondrion, Gene editing, RNA, Doctor of Philosophy, Precision, Disorder, Mitochondrial myopathy, Cell biology, Patient, Anatomy, Entrepreneurship, Lactic acidosis, Vaccine, Neurology

18/161,560, titled “Engineered Meganucleases That Target Human Mitochondrial Genomes.” Once issued, the patent arising from this application will have a standard expiration date in April 2042.

Key Points: 
  • 18/161,560, titled “Engineered Meganucleases That Target Human Mitochondrial Genomes.” Once issued, the patent arising from this application will have a standard expiration date in April 2042.
  • The allowed composition of matter claims in this U.S. application encompass a mitochondria-targeted ARCUS nuclease (mitoARCUS) that is designed to specifically target, cleave, and eliminate mutant mitochondrial DNA comprising an m.3243A>G mutation.
  • Precision recently announced PBGENE-PMM, the Company’s clinical candidate targeting mutant mitochondrial DNA, as a potentially first-in-class opportunity for treatment of m.3243 associated primary mitochondrial myopathy.
  • Utilizing the claimed mitoARCUS nuclease, PBGENE-PMM is designed to target and eliminate mutant mitochondrial DNA, allowing for repopulation by wild-type mitochondrial DNA and restoration of mitochondrial function.

GeneDx to Present New Data on Urine Mitochondrial DNA Testing at the 2023 United Mitochondrial Disease Foundation’s Mitochondrial Medicine Symposium

Retrieved on: 
Wednesday, June 28, 2023
Medical genetics, UMDF, MELAS, MIDD, DNA, Diabetes, GeneDx, Urine, Deafness, Cell, Mitochondrial myopathy, A-DNA, Patient, FACMG, Heteroplasmy, WGS, Lactic acidosis, Vaccine

STAMFORD, Conn., June 28, 2023 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced it will present new data on urine mitochondrial DNA testing at the 2023 United Mitochondrial Disease Foundation’s (UMDF) Mitochondrial Medicine Symposium in Charlotte, North Carolina, June 28 - July 1, 2023.

Key Points: 
  • STAMFORD, Conn., June 28, 2023 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced it will present new data on urine mitochondrial DNA testing at the 2023 United Mitochondrial Disease Foundation’s (UMDF) Mitochondrial Medicine Symposium in Charlotte, North Carolina, June 28 - July 1, 2023.
  • Poster: Is the m.3243A>G variant detected in urine diagnostic for the patient’s disease?
  • “Mitochondrial disease may be caused by genetic variants in DNA found in the nucleus of cells or by genetic variants in the body's mitochondrial DNA (mtDNA).
  • Data presented this week by GeneDx demonstrates how urine mitochondrial DNA testing can be a clinically impactful and non-invasive option for analysis of the m.3243A>G variant.”

New Research from Sema4|GeneDx Highlights the Importance of Rapid Exome Sequencing for Diagnosing Mitochondrial Diseases in the NICU

Retrieved on: 
Monday, December 5, 2022
GeneDx, A-DNA, Mitochondrion, Disorder, Lactic acidosis, Health, Incidence, Mitochondrial disease, Degenerative disease, DNA, Hypotonia, Hot Topic, National Harbor, Maryland, Seizure, SMFR, Machine learning, Jean-Louis Vincent, Research, Database, Disease, Genome, NICU, AI, Patient, Medical imaging, Neonatology, MD

The findings support the addition of mitochondrial DNA (mtDNA) testing to rapid exome sequencing, showing it can lead to earlier diagnoses and more immediate potential changes in clinical management.

Key Points: 
  • The findings support the addition of mitochondrial DNA (mtDNA) testing to rapid exome sequencing, showing it can lead to earlier diagnoses and more immediate potential changes in clinical management.
  • The research evaluates the incidence of mitochondrial disease caused by both nuclear DNA (nDNA) and mtDNA in 966 infants in the NICU who received both rapid exome sequencing and mtDNA sequencing and deletion testing concurrently.
  • Mitochondrial diseases are chronic, genetic disorders that occur when mitochondria fail to produce enough energy for the body to function properly.
  • Mitochondrial diseases are individually rare but, collectively, as this study shows, this group of disorders is not uncommon in clinical settings.

Khondrion announces sonlicromanol Phase IIb progress supporting Phase III development in MELAS spectrum disorders

Retrieved on: 
Tuesday, November 22, 2022
Human voice, Deafness, MT-TL1, Learning, Mitochondrial disease, Cell, Cognition, Enzyme, Clinician, Natural history study, Mitochondrial encephalomyopathy, RAND, Leigh syndrome, Conference, Neuro, Pain, Degenerative disease, Fatigue, Exercise, CFQ, Growth, BDI, DNA, Life, Phase, Lactic acidosis, Global health, Jungian cognitive functions, Diabetes, Research, Severe cognitive impairment, Safety, Gross, Pharmacokinetics, Mutation, Heart failure, Beck, Mitochondrion, Muscle weakness, Government, Point mutation, Collection, Quality of life, Beck Depression Inventory, IIB, Pharmaceutical industry, Medical imaging, Medical device, Patient, MELAS, MIDD

Sonlicromanol, Khondrions wholly-owned lead asset, is being investigated in the Phase IIb programme in adult patients with MELAS spectrum disorders as genetically confirmed by the m.3243A>G mutation in the mitochondrial DNA.

Key Points: 
  • Sonlicromanol, Khondrions wholly-owned lead asset, is being investigated in the Phase IIb programme in adult patients with MELAS spectrum disorders as genetically confirmed by the m.3243A>G mutation in the mitochondrial DNA.
  • In line with previous studies, sonlicromanol was found to be safe and well tolerated in the Phase IIb programme, with no serious adverse effects.
  • These longer-term patient data are, therefore, instrumental in providing valuable insights for the design of the upcoming Phase III trial.
  • One of the most advanced disease-modifying drug candidates for mitochondrial disease in development, sonlicromanol has recently completed a Phase IIb study in adult patients with m.3243A>G MELAS spectrum disorders.

Khondrion announces sonlicromanol Phase IIb progress supporting Phase III development in MELAS spectrum disorders

Retrieved on: 
Tuesday, November 22, 2022
Human voice, Deafness, MT-TL1, Learning, Mitochondrial disease, Cell, Cognition, Enzyme, Clinician, Natural history study, Mitochondrial encephalomyopathy, RAND, Leigh syndrome, Conference, Neuro, Pain, Degenerative disease, Fatigue, Exercise, CFQ, Growth, BDI, DNA, Life, Phase, Lactic acidosis, Global health, Jungian cognitive functions, Diabetes, Research, Severe cognitive impairment, Safety, Gross, Pharmacokinetics, Mutation, Heart failure, Beck, Mitochondrion, Muscle weakness, Government, Point mutation, Collection, Quality of life, Beck Depression Inventory, IIB, Pharmaceutical industry, Medical imaging, Medical device, Patient, MELAS, MIDD

Sonlicromanol, Khondrions wholly-owned lead asset, is being investigated in the Phase IIb programme in adult patients with MELAS spectrum disorders as genetically confirmed by the m.3243A>G mutation in the mitochondrial DNA.

Key Points: 
  • Sonlicromanol, Khondrions wholly-owned lead asset, is being investigated in the Phase IIb programme in adult patients with MELAS spectrum disorders as genetically confirmed by the m.3243A>G mutation in the mitochondrial DNA.
  • In line with previous studies, sonlicromanol was found to be safe and well tolerated in the Phase IIb programme, with no serious adverse effects.
  • These longer-term patient data are, therefore, instrumental in providing valuable insights for the design of the upcoming Phase III trial.
  • One of the most advanced disease-modifying drug candidates for mitochondrial disease in development, sonlicromanol has recently completed a Phase IIb study in adult patients with m.3243A>G MELAS spectrum disorders.

Precision BioSciences Announces Preclinical Data Showcasing Premier In Vivo Gene Editing Capabilities at American Society of Gene & Cell Therapy Annual Meeting

Retrieved on: 
Monday, May 16, 2022
Science, Biotechnology, Research, Pharmaceutical, Health, Infectious Diseases, Genetics, Clinical Trials, RNA transfection, HBV, Lactic acidosis, Washington Convention Center, Liver, Mitochondrial encephalomyopathy, CccDNA, Private Securities Litigation Reform Act, Animal, Mitochondrion, CAR, SEC, LNP, HAO1, Annual report, Serum, Investor, COVID-19, WT, Research, Mouse, MELAS, Growth, Achievement, DNA, Genome, Protein engineering, PH1, Infection, Insurance, PCSK9, Abstract (summary), Gene editing, Hepatitis B, Adult, Ownership, Organic acid, CTA, List, Walter E. Washington Convention Center, Hepatitis B virus, Therapy, Cell, NHP, A-DNA, PHH, Nasdaq, Ornithine transcarbamylase deficiency, Patient, Poster, OTC, Society, Privacy, HAO, Gene, AAV, Intellectual property, Forward-looking statement, Compliance, Walter, Re Recher's Will Trusts, Safety, Technology, SEC filing, Infant, Hepatocyte, Hepatitis, Mutation, Vaccine, D.C, HBsAg, IND

Data from this preclinical study demonstrate Precisions gene editing approach designed to eliminate hepatitis B virus (HBV).

Key Points: 
  • Data from this preclinical study demonstrate Precisions gene editing approach designed to eliminate hepatitis B virus (HBV).
  • These data suggest that LNP-delivered ARCUS mRNA is a promising approach and potential functional cure for chronic hepatitis B.
  • Precision will continue developing its PBGENE-HBV product candidate using LNP delivery and expects to submit an IND/CTA in 2024.
  • Preclinical data presented in this poster demonstrate Precisions gene editing approach to shift mitochondrial DNA (mtDNA) heteroplasmy for the m.3243A>G mtDNA mutation.

Khondrion completes enrolment in KHENERGYZE Phase IIb trial evaluating sonlicromanol in adult patients with MELAS spectrum disorders

Retrieved on: 
Monday, January 10, 2022
Safety, Mitochondrial encephalomyopathy, DNA, Cognitive deficit, Mutation, Patient, Cognitive Function Scanner, Adult, Dementia, Deafness, MELAS, Lactic acidosis, Attention, Diabetes, Degenerative disease, Mitochondrial disease, Pharmaceutical industry, MIDD

Sonlicromanol is Khondrions wholly-owned, lead asset being developed to treat a range of mitochondrial diseases in children and adults.

Key Points: 
  • Sonlicromanol is Khondrions wholly-owned, lead asset being developed to treat a range of mitochondrial diseases in children and adults.
  • In Phase I and Phase IIa studies, sonlicromanolshowed a good safety and tolerability profile well beyond target therapeutic dosing levels.
  • This mutation is responsible for MELAS spectrum disorders, including MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), MIDD (maternally inherited diabetes and deafness) syndromes, and mixed phenotypes.
  • Sonlicromanols development programme also includes two other ongoing clinical studies: the KHENEREXT Phase IIb open label extension study, examining the long-term safety and efficacy of sonlicromanol in adult patients who have completed the KHENERGYZE study, and the KHENERGYC Phase II study in children.

Ultragenyx Announces Additional Positive Multi-Year Durability Data from Phase 1/2 AAV Gene Therapy Studies

Retrieved on: 
Monday, November 29, 2021
Patient, Private Securities Litigation Reform Act, Tissue, Infant, Security (finance), Liver transplantation, Disease, Toxic leukoencephalopathy, Lactic acidosis, Biology, Diet, Hypoglycemia, Blood, U.S. Securities and Exchange Commission, Therapy, COVID-19, Glycogen, Ammonia, Orphan, Kidney, Investment, Risk, GLOBE, International Congress on Tuberculosis, Fast Track, Â, OTC, HIV disease progression rates, Fasting, Uncertainty, AAV, Late onset congenital adrenal hyperplasia, Ornithine transcarbamylase deficiency, NASDAQ, Glucose, Glycogen storage disease, Liver, Pharmaceutical industry, Medical imaging

Across all patients in the Phase 1/2 study, to date there have been no infusion-related adverse events, no treatment-related serious adverse events, and no dose-limiting toxicities reported.

Key Points: 
  • Across all patients in the Phase 1/2 study, to date there have been no infusion-related adverse events, no treatment-related serious adverse events, and no dose-limiting toxicities reported.
  • It is caused by a defective gene coding for the enzyme G6Pase-, resulting in the inability to regulate blood sugar (glucose).
  • DTX401 is an investigational adeno-associated virus (AAV) type 8 gene therapy designed to deliver stable expression and activity of G6Pase- under control of the native promoter.
  • DTX301 is an investigational AAV type 8 gene therapy designed to deliver stable expression and activity of OTC following a single intravenous infusion.

Khondrion announces first patients dosed in 6-month paediatric Phase II study of sonlicromanol for mitochondrial diseases

Retrieved on: 
Wednesday, April 21, 2021
Branches of biology, Mitochondrial diseases, Genodermatoses, MELAS syndrome, Syndromes, Mitochondrial disease, Encephalopathy, Lactic acidosis, MT-TL1, MT-TF

First patients are being dosed at the Radboud Centre for Mitochondrial Medicine, Nijmegen, The Netherlands.

Key Points: 
  • First patients are being dosed at the Radboud Centre for Mitochondrial Medicine, Nijmegen, The Netherlands.
  • Despite advances in the understanding of mitochondrial disorders, treatment options are extremely limited and, to date, largely consist of supportive care.
  • A Phase IIb clinical trial in adult patients with MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) spectrum disorders is ongoing, investigating the effect of sonlicromanol on cognitive functioning.
  • It has also been granted a Rare Pediatric Disease (RPD) designation in the US for the treatment of MELAS.\n'