PLA2G6

Genomenon Presents Study Identifying 11,000 Gene Disease Relationships Across the Clinical Exome at the ACMG Annual Clinical Genetics Meeting

Retrieved on: 
Thursday, March 14, 2024
Diagnosis, ANN, Gene, Comparison, Broad Institute, Genetic testing, Disease, Risk, CALM3, Patient, Chromosome, Virginia High School League, Doctor of Philosophy, NIH, Medicine, Genome, VUS, PLA2G6, Literature, ACMG, Data, CALM, Vaccine

ANN ARBOR, Mich., March 14, 2024 /PRNewswire-PRWeb/ -- Genomenon, a leading genomic intelligence company, presented data at the ACMG Annual Clinical Genetics Meeting today demonstrating how computational indexing of millions of published abstracts and full-text references combined with a systematic literature review can be used to rapidly and accurately characterize gene-disease relationships (GDRs) and to resolve variants of uncertain significance (VUS). The study was completed in less than six months and identified 10,745 germline GDRs and 5,973 germline GDRs with positive associations between a disease and gene. Each GDR is accompanied by well-documented scientific evidence curated by Genomenon's team of genetic scientists. Today's presentation shares a milestone in the company's mission to curate the human genome and understand the pathogenicity of any variant for patient diagnosis and precision medicine development.

Key Points: 
  • The study was completed in less than six months and identified 10,745 germline GDRs and 5,973 germline GDRs with positive associations between a disease and gene.
  • This need is underscored by the fact that the number of VUS's is growing exponentially due to increased genetic testing and sequencing.
  • The study used a literature-based approach that     gathered variants through Genomenon's Mastermind Genomic Intelligence Platform and variant databases.
  • The study demonstrated that there is only a 27% match of genetic variants listed in current databases and those found in the literature.

Orphan designation: Adeno-associated viral vector serotype 9 containing the human PLA2G6 gene Treatment of infantile neuroaxonal dystrophy, 10/12/2023 Positive

Retrieved on: 
Sunday, February 4, 2024
COMP, IRIS, European Commission, PLA2G6, Committee, Patient, EMA, Pharmaceutical industry

Key facts

Key Points: 
  • Key facts
    - Active substance
    - Adeno-associated viral vector serotype 9 containing the human PLA2G6 gene
    - Intended use
    - Treatment of infantile neuroaxonal dystrophy
    - Orphan designation status
    - Positive
    - EU designation number
    - EU/3/23/2845
    - Date of designation
    - Sponsor
    FGK Representative Service GmbH
    Patients' organisations
    For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
    European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
  • EU register of orphan medicines
    The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:
    EMA list of opinions on orphan medicinal product designation
    EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

Charles River and INADcure Announce Gene Therapy Manufacturing Collaboration

Retrieved on: 
Thursday, June 8, 2023
Neurology, Biotechnology, Pharmaceutical, General Health, Health, Medical Devices, Genetics, Clinical Trials, GMP, Seizure, Good, Associate Director of National Intelligence and Chief Information Officer, DNA, Infantile neuroaxonal dystrophy, Plasmid, Good manufacturing practice, Therapy, Hearing loss, Neurodegenerative disease, Cognate, Display resolution, Mutation, Research, Life expectancy, Doctor of Philosophy, PLAN, HQ, CDMO, Patient, INAD, Drug discovery, Diagnosis, CRL, PLA2G6, Nerve, NYSE, Tecmar, Disease, Pharmaceutical industry, Vaccine

The collaboration will leverage Charles River’s market leading contract development and manufacturing organization (CDMO) expertise in High Quality (HQ) plasmid DNA production, to manufacture its leading candidate for Phase I/II clinical trials.

Key Points: 
  • The collaboration will leverage Charles River’s market leading contract development and manufacturing organization (CDMO) expertise in High Quality (HQ) plasmid DNA production, to manufacture its leading candidate for Phase I/II clinical trials.
  • Plasmid DNA is a critical starting material for many cell and gene therapy therapeutics and demand continues to outstrip supply.
  • In response to this, Charles River recently announced the opening of a state-of-the-art HQ plasmid manufacturing center of excellence to address these supply shortages and support the growing needs of the cell and gene therapy field.
  • Their invaluable expertise will undoubtedly contribute to the advancement of our gene therapy program.” - Leena Panwala, Founder & Executive Director at INADcure.

Retrotope Reports Data from Phase 2/3 Clinical Trial of RT001 and Concurrent Natural History Study in Patients with Infantile Neuroaxonal Dystrophy (INAD)

Retrieved on: 
Wednesday, October 6, 2021
Infantile neuroaxonal dystrophy, Food, PLA2G6, Infant, Degenerative disease, Failure, FA, University of California, Patient, NDA, Lipid peroxidation, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Therapy, RT001, Hypotonia, Amyotrophic lateral sclerosis, FDA, Disorder, Death, Spasticity, AMD, PSP, Dihydroxy-E,Z,E-PUFA, INAD, University, Food and Drug Administration, LPO, Neurology, Comparative effectiveness research, LA, Disease, Autonomic nervous system, New Drug Application, Pneumonia, HIV disease progression rates, Mitochondrial membrane transport protein, Technology, DHA, ALS, Research, Oxidative stress, Tissue, Brain, Genetics, Radical (chemistry), LOS, Survival, SAP, Membrane, Neurodegeneration, Totality, Seizure, GLOBE, Metabolism, Pharmaceutical industry

LOS ALTOS, Calif., Oct. 06, 2021 (GLOBE NEWSWIRE) -- Retrotope, a clinical-stage biopharmaceutical company focused on the development of novel, first-in-class therapies for degenerative diseases, today reported data from its Phase 2/3 clinical trial of RT001 in patients with infantile neuroaxonal dystrophy (INAD) and its concurrent natural history study of disease onset and progression in INAD patients. Results demonstrated statistically significant improvements in overall survival and progression free survival for patients treated with RT001 as compared to control. These survival endpoints included a combination of efficacy and safety measures. Additionally, clinical improvements were observed in patients receiving RT001 as measured by the Modified Ashworth Spasticity Scale, the study’s primary efficacy endpoint, and other measurements of efficacy as compared to patients in the natural history study. These single efficacy outcomes did not reach statistical significance likely due to the small study size.

Key Points: 
  • Results demonstrated statistically significant improvements in overall survival and progression free survival for patients treated with RT001 as compared to control.
  • The treatment study of RT001 included 19 INAD patients and the concurrent natural history study included 36 INAD patients as the control arm.
  • Patients in the treatment study received RT001 for a minimum period of one year with a 30-day treatment free follow up period.
  • Infantile Neuroaxonal Dystrophy is an ultra-rare, infantile genetic neurological disorder and part of a spectrum of diseases called PLA2G6-associated neurodegeneration.