Mutation

Orphan designation: antisense oligonucleotide targeting exon 73 in the COL7A1 gene Treatment of epidermolysis bullosa, 12/10/2017 Withdrawn

Retrieved on: 
Thursday, April 18, 2024
Eurostat, Diagnosis, Civil service commission, Gene, Mutation, Epidermolysis bullosa, Skin cancer, Patient, Committee, Knowledge, Regulation, Keratin, EMA, IRIS, Protein, Life expectancy, Deformity, Blister, European, Skin, Collagen, COMP, Infection, Sponsor, European Commission, Safety, Unit, Marketing, COL7A1, Medicine, Pharmaceutical industry

Orphan designation: antisense oligonucleotide targeting exon 73 in the COL7A1 gene Treatment of epidermolysis bullosa, 12/10/2017 Withdrawn

Key Points: 


Orphan designation: antisense oligonucleotide targeting exon 73 in the COL7A1 gene Treatment of epidermolysis bullosa, 12/10/2017 Withdrawn

Orphan designation: 6'-(R)-methyl-5-O-(5-amino-5,6-dideoxy-α-L-talofuranosyl)-paromamine sulfate Treatment of mucopolysaccharidosis type I, 22/09/2016 Positive

Retrieved on: 
Thursday, April 18, 2024
Eurostat, Diagnosis, Civil service commission, Death, Glycosaminoglycan, B cell, Enzyme, Mutation, Medicine, Cell, Mental disability, Disease, Patient, Committee, Knowledge, Scheie syndrome, Regulation, EMA, IRIS, Periodic breathing, Mucopolysaccharidosis, European, COMP, Enzyme replacement therapy, European Commission, Safety, DSM-IV codes, IQVIA, Marketing, Haematopoiesis, Liver, RDS, FGK, Hurler syndrome, MPS, Pharmaceutical industry

Orphan designation: 6'-(R)-methyl-5-O-(5-amino-5,6-dideoxy-α-L-talofuranosyl)-paromamine sulfate Treatment of mucopolysaccharidosis type I, 22/09/2016 Positive

Key Points: 


Orphan designation: 6'-(R)-methyl-5-O-(5-amino-5,6-dideoxy-α-L-talofuranosyl)-paromamine sulfate Treatment of mucopolysaccharidosis type I, 22/09/2016 Positive

Revolution Medicines Announces Publication on the Discovery of and Translational Research for RMC-6236, an Investigational RAS(ON) Multi-Selective Tri-Complex Inhibitor Designed to Block Full Spectrum of Oncogenic RAS(ON) Proteins

Retrieved on: 
Tuesday, April 9, 2024
Mutation, Growth, NSCLC, Colorectal cancer, RAS, Patient, Research, PDAC, Lung cancer, GTP, AACR, Clinical trial, Cancer, CRC, G13, G12, Pharmaceutical industry

This original research was led by scientists at Revolution Medicines and conducted in collaboration with researchers from across the U.S. and Europe.

Key Points: 
  • This original research was led by scientists at Revolution Medicines and conducted in collaboration with researchers from across the U.S. and Europe.
  • Oncogenic RAS proteins drive up to 30 percent of all human cancers, most notably non-small cell lung cancer (NSCLC), colorectal cancer (CRC) and pancreatic ductal adenocarcinoma (PDAC).
  • RAS G12 mutations, such as G12D, G12V and G12C, predominate in human cancers.
  • The paper describes the discovery of RMC-6236, an oral, multi-selective inhibitor of the active GTP-bound (ON) state of both mutant and wild-type RAS.

C4 Therapeutics Presents New Preclinical Data for CFT1946 Highlighting Superior Activity as a Single Agent to Clinically Approved BRAF Inhibitor Standard of Care Combinations at the American Association for Cancer Research Annual Meeting 2024

Retrieved on: 
Monday, April 8, 2024
Brain, RAF, Survival, NSCLC, Disease, Colorectal cancer, Cetuximab, Patient, CNS, The central science, Lung cancer, BRAF, AACR, Therapy, CRC, Poster, CCCC, Mutation, Vaccine

CFT1946 is an orally bioavailable BiDAC™ degrader that selectively degrades the BRAF V600X mutant protein and prevents RAF dimer-mediated resistance.

Key Points: 
  • CFT1946 is an orally bioavailable BiDAC™ degrader that selectively degrades the BRAF V600X mutant protein and prevents RAF dimer-mediated resistance.
  • Further, in a significant number of patients with BRAF V600X melanoma and NSCLC, the disease metastasizes to the brain.
  • Promising activity of CFT1946 as a single agent in a broad range of BRAF V600X preclinical models, including models of BRAFi resistance.
  • Details of the poster are as follows:
    Title: CFT1946, a potent, selective BRAF V600X mutant-specific degrader demonstrates superior activity as a single agent to clinically approved BRAF inhibitors and standard of care combinations in preclinical models of BRAF V600X melanoma, CRC, NSCLC, and brain metastasis

Black Diamond Therapeutics Presents Novel Real-World Evidence of the Evolving EGFR Mutation Landscape in NSCLC and the Opportunity for BDTX-1535 in an Oral Presentation at the 2024 American Association of Cancer Research Annual Meeting

Retrieved on: 
Sunday, April 7, 2024
Diamond, EGFR, Helmy Eltoukhy, Mutation, Prevalence, NSCLC, Survival, Foundation Medicine, Patient, Cancer, Lung cancer, AACR, PACC, TKI, Drug resistance, MD Anderson Cancer Center, Associate professor

CAMBRIDGE, Mass., April 07, 2024 (GLOBE NEWSWIRE) -- Black Diamond Therapeutics, Inc. (Nasdaq: BDTX), a clinical-stage oncology company developing MasterKey therapies that target families of oncogenic mutations in patients with cancer, presented real-world evidence of the evolving epidermal growth factor receptor (EGFR) mutation landscape in non-small cell lung cancer (NSCLC), and the potential of BDTX-1535 to address a broader range of mutations compared to existing therapies. The results were disclosed in an oral presentation on April 7, 2024, at the 2024 American Association of Cancer Research (AACR) Annual Meeting held in San Diego, California.

Key Points: 
  • The results were disclosed in an oral presentation on April 7, 2024, at the 2024 American Association of Cancer Research (AACR) Annual Meeting held in San Diego, California.
  • The analyses reveal a broad spectrum of non-classical mutations, as well as an increased prevalence of the acquired resistance mutation, C797S.
  • The compound also potently inhibits the drug resistance C797S mutation, which emerges following treatment with third-generation EGFR inhibitors, including osimertinib.
  • Black Diamond is currently advancing BDTX-1535 in a Phase 2 trial for patients with EGFRm NSCLC across multiple lines of therapy.

Akoya Biosciences Showcases Spatial Biology 2.0 Solutions at AACR Annual Meeting with Case Studies Demonstrating Unprecedented Speed and Scale

Retrieved on: 
Friday, April 5, 2024
Head, Algorithm, Immunotherapy, University, Neoplasm, PM, Vaccine, Analysis, Navigation, Mutation, Thermo Fisher Scientific, Cancer, Unprecedented, Glioblastoma, Result, Risk, Research, Tumor microenvironment, Antibody, Security (finance), Personalized medicine, PST, Proteomics, AACR, Pancreatic cancer, Ultrahigh, Conversation, Annual general meeting, AQUA, Lung cancer, University of Queensland, MIT, Titan Mare Explorer, Medical imaging

MARLBOROUGH, Mass., April 05, 2024 (GLOBE NEWSWIRE) -- Akoya Biosciences, Inc., (Nasdaq: AKYA), The Spatial Biology Company®, today announced it will highlight case studies featuring its Spatial Biology 2.0 Solutions that enable unprecedented speed and scale for spatial biology studies at the American Association for Cancer Research (AACR) 2024 Annual Meeting in San Diego, April 5 to 10.

Key Points: 
  • MARLBOROUGH, Mass., April 05, 2024 (GLOBE NEWSWIRE) -- Akoya Biosciences, Inc., (Nasdaq: AKYA), The Spatial Biology Company®, today announced it will highlight case studies featuring its Spatial Biology 2.0 Solutions that enable unprecedented speed and scale for spatial biology studies at the American Association for Cancer Research (AACR) 2024 Annual Meeting in San Diego, April 5 to 10.
  • Industry-leading capabilities of the company’s spatial biology platforms will be presented during Akoya’s Spotlight Theater, titled “Spatial Biology 2.0: Spatial Insights and Precision Medicine at Unprecedented Scale” on Monday, April 8 at 3 PM (PST).
  • Akoya Biosciences will demonstrate new uses of its PhenoCode Signature Panels for accelerating discovery and validation of spatial biomarkers using the PhenoImager HT 2.0 platform.
  • PhenoImager HT 2.0: Features targeted PhenoCode Signature Panels and onboard spectral unmixing, simplifying biomarker development and validation workflows for large scale studies.

QIAGEN strengthens its portfolio for cancer research, showcasing latest product launches at AACR Annual Meeting 2024

Retrieved on: 
Wednesday, April 3, 2024
EGFR, Gene, Nested polymerase chain reaction, Professor, Cancer Institute, Circulating free DNA, Neoplasm, TCR, Research institute, QGEN, Research, PCR, Central business district, NGS, DNA, BRAF, Diagnosis, WIA, Cancer, Immune system, Liquid biopsy, UMI, Mutation, Genetics, Human genetics, Senior, AACR, Medical school, QIAGEN, Poster, Environment, IVD, Urine

Two Exhibitor Spotlight Theater sessions and several poster presentations will highlight additional advances from QIAGEN in this field.

Key Points: 
  • Two Exhibitor Spotlight Theater sessions and several poster presentations will highlight additional advances from QIAGEN in this field.
  • EGFR and BRAF are genes essential for normal cell growth and function, but mutations in these genes can result in cancer development.
  • To advance research on how the immune system interacts with cancer, QIAGEN has introduced the QIAseq Targeted RNA-seq Panel for T-cell receptors.
  • Learn more about QIAGEN’s offering at the AACR Annual Meeting 2024, (booth #922 in the San Diego Convention Center) and poster presentations highlighting new solutions in digital PCR, NGS and preanalytical workflows at https://www.qiagen.com/applications/cancer-research/aacr-2024-annual-mee... .

Erasca Reports Fourth Quarter 2023 and Full Year 2023 Business Updates and Financial Results

Retrieved on: 
Wednesday, March 27, 2024
Administration, EGFR, Mutation, Index, Colorectal cancer, Cetuximab, Central nervous system, Novartis, Webcast, Patient, GBM, CNS, Neoplasm, Acquisition, G&A, Insurance, BRAF, NRAS, MEK, CRC, Melanoma, ASCO, ID, MTD, Research and development, Probability, Data, FDA, Outsourcing, FTD, Pharmaceutical industry

SAN DIEGO, March 27, 2024 (GLOBE NEWSWIRE) -- Erasca, Inc. (Nasdaq: ERAS), a clinical-stage precision oncology company singularly focused on discovering, developing, and commercializing therapies for patients with RAS/MAPK pathway-driven cancers, today provided business updates and reported financial results for the fiscal quarter and full year ended December 31, 2023.

Key Points: 
  • In addition, a strategic pipeline prioritization sharpened Erasca’s focus on existing programs that we believe have the highest probability of success for patients.
  • Research and Development (R&D) Expenses: R&D expenses were $24.8 million for the quarter ended December 31, 2023, compared to $29.4 million for the quarter ended December 31, 2022.
  • General and Administrative (G&A) Expenses: G&A expenses were $9.1 million for the quarter ended December 31, 2023, compared to $8.7 million for the quarter ended December 31, 2022.
  • Erasca will hold a conference call and webcast on Thursday, March 28, 2024 at 8:30 am ET.

Immuneering Announces First Patient Dosed in its Phase 1/2a Trial of IMM-6-415 to Treat Advanced Solid Tumors with RAF or RAS Mutations

Retrieved on: 
Wednesday, March 27, 2024
Mutation, RAF, MAPK, Growth, Half-life, PD, Colorectal cancer, RAS, Patient, Neoplasm, Cancer, HRAS, DCI, Human, Binimetinib, AACR, NRAS, Safety, Cycle, Pharmacokinetics, Encorafenib, Pharmaceutical industry

CAMBRIDGE, Mass., March 27, 2024 (GLOBE NEWSWIRE) -- Immuneering Corporation (Nasdaq: IMRX), a clinical-stage oncology company seeking to develop and commercialize universal-RAS/RAF medicines for broad populations of cancer patients, today announced that the first patient has been dosed in its Phase 1/2a trial of IMM-6-415 to treat advanced solid tumors with RAF or RAS mutations.

Key Points: 
  • In animal studies, IMM-6-415 strongly inhibited the growth of tumors with RAF or RAS mutations, as both a monotherapy and in combinations.
  • “We are pleased to have dosed the first patient in our Phase 1/2a trial for IMM-6-415, our second product candidate to enter the clinic,” said Ben Zeskind, Chief Executive Officer, Immuneering Corporation.
  • We believe the shorter half-life of IMM-6-415 could provide a potential treatment option for a broad patient population with RAS or RAF mutations.
  • The trial will include solid tumor patients with any mutation in RAF, KRAS, NRAS, or HRAS who meet the enrollment criteria.

Beam Therapeutics Announces Clearance of Clinical Trial Authorisation Application for BEAM-302 for the Treatment of Alpha-1 Antitrypsin Deficiency (AATD)

Retrieved on: 
Tuesday, March 26, 2024
Piz, AATD, Mutation, Biotechnology, Patient, Lung, CTA, AAT, Life expectancy, Safety, Pharmacokinetics, Liver, Medication, Pharmaceutical industry

CAMBRIDGE, Mass., March 26, 2024 (GLOBE NEWSWIRE) -- Beam Therapeutics Inc. (Nasdaq: BEAM), a biotechnology company developing precision genetic medicines through base editing, today announced the clearance of its clinical trial authorisation (CTA) application by the United Kingdom (UK) Medicines and Healthcare Products Regulatory Agency for BEAM-302, an in vivo base editor, as a potential treatment for patients with alpha-1 antitrypsin deficiency (AATD).

Key Points: 
  • CAMBRIDGE, Mass., March 26, 2024 (GLOBE NEWSWIRE) -- Beam Therapeutics Inc. (Nasdaq: BEAM), a biotechnology company developing precision genetic medicines through base editing, today announced the clearance of its clinical trial authorisation (CTA) application by the United Kingdom (UK) Medicines and Healthcare Products Regulatory Agency for BEAM-302, an in vivo base editor, as a potential treatment for patients with alpha-1 antitrypsin deficiency (AATD).
  • “AATD is an inherited genetic condition that can cause serious lung and liver disease, which can lead to significant debility and reduced life expectancy for patients.
  • The study design includes a dose exploration portion followed by a dose expansion portion to identify the optimal dose to take forward in a pivotal study.
  • The company expects to initiate the Phase 1/2 trial of BEAM-302 in the UK in the first half of 2024.