ATP7B

Ultragenyx Announces Completion of Dosing Across Stage 1 Cohorts in Pivotal Phase 1/2/3 Cyprus2+ Study Evaluating UX701 Gene Therapy for the Treatment of Wilson Disease

Retrieved on: 
Thursday, January 25, 2024
Patient, ATP7B, Stage 2, Data, Safety, Wilson's disease, Pinnacle, Week, Physician, Pharmaceutical industry

NOVATO, Calif., Jan. 25, 2024 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE) today announced that all patients have been dosed with UX701 across the three dose-escalation cohorts in Stage 1 of its pivotal Phase 1/2/3 Cyprus2+ study. The company's investigational AAV9 gene therapy is designed to deliver stable expression of the ATP7B copper transporter following a single intravenous infusion, with the goal of normalizing copper metabolism in patients with Wilson disease.

Key Points: 
  • Four of five patients enrolled in Cohort 1 had started tapering standard-of-care treatment, including two that came completely off of chelators and/or zinc therapy.
  • This study evaluating UX701 for the potential treatment of Wilson disease is designed with three stages.
  • In Stage 2, a new cohort of patients will be randomized 2:1 to receive the selected dose of UX701 or placebo.
  • After the initial 52-week study period, all patients will have long-term follow up in Stage 3.

Deep Genomics Introduces the Most Advanced AI Foundation Model for RNA Disease Mechanisms and Candidate Therapeutics

Retrieved on: 
Wednesday, September 27, 2023
Technology, Research, Genetics, Biotechnology, Health, Pharmaceutical, Data Management, Science, Artificial Intelligence, Molecular biology, Database, DNA, Genotype, Drug development, Therapy, Classification, SBO, Genomics, Deep learning, MicroRNA, Gene expression, RNA, RBP, Wilson's disease, Manuscript, Protein, Machine learning, Long QT syndrome, ATP7B, Engineering, Drug discovery, Biology, AI, Exon, Gene, Polyadenylation, Vaccine, New York University

Deep Genomics, a leading AI drug development company focused on decoding biology to program life-changing medicines, announced today the release of the manuscript, “An RNA foundation model enables discovery of disease mechanisms and candidate therapeutics” introducing the company’s AI foundation model, BigRNA.

Key Points: 
  • Deep Genomics, a leading AI drug development company focused on decoding biology to program life-changing medicines, announced today the release of the manuscript, “An RNA foundation model enables discovery of disease mechanisms and candidate therapeutics” introducing the company’s AI foundation model, BigRNA.
  • As outlined in the manuscript, BigRNA accurately predicts the tissue-specific regulatory mechanisms of RNA expression and the binding sites of proteins and microRNAs, plus the effects of variants and candidate therapeutics.
  • Deep Genomics has shown that our unique AI foundation model, BigRNA, can utilize DNA sequences to accurately discover the effects of non-coding, missense and synonymous variants on tissue-specific gene regulation, identify new mechanisms of RNA biology, and design RNA therapeutic candidates,” said Brendan Frey, Ph.D., F.R.S.C., founder and chief innovation officer at Deep Genomics.
  • We believe that BigRNA and deep learning systems like it have the potential to transform the field of RNA therapeutics.”
    “Kudos to Brendan and the team at Deep Genomics for their remarkable research on developing the first foundation model for RNA therapeutics.

Ultragenyx Announces Initiation of Dosing in Second Cohort of Pivotal Phase 1/2/3 Cyprus2+ Trial Evaluating UX701 Gene Therapy for the Treatment of Wilson Disease

Retrieved on: 
Monday, July 31, 2023
Acceleration, Week, SOC, Wilson, Stage 2, Wilson's disease, Data monitoring committee, Patient, Standard of care, ATP7B, Copper, Safety, Pharmaceutical industry, Ultragenyx

In the first dose cohort, UX701 has been well tolerated with no unexpected related treatment emergent adverse events observed as of July 11, 2023.

Key Points: 
  • In the first dose cohort, UX701 has been well tolerated with no unexpected related treatment emergent adverse events observed as of July 11, 2023.
  • The Data Safety Monitoring Board recommended that the company proceed with dosing patients at the higher dose of 1.0 x 10^13 GC/kg.
  • Investigators have dosed the first patient and have identified and screened the remaining four patients for dosing in Cohort 2.
  • In Stage 2, a new cohort of patients will be randomized 2:1 to receive the selected dose of UX701 or placebo.

PANTHERx® Rare Announces Release of CUVRIOR™ (trientine tetrahydrochloride) to Treat Wilson Disease

Retrieved on: 
Thursday, April 20, 2023
Triethylenetetramine, NCC, Tremor, Depression, Psychosis, Anxiety, Mutation, Liver injury, Jaundice, Genetic disorder, Patient, ATP7B, Anemia, Penicillamine, Liver, Copper, Disease

PITTSBURGH, April 19, 2023 /PRNewswire/ -- PANTHERx® Rare, a leader in rare disease product patient access and support services in the United States, is pleased to announce the launch of CUVRIOR to treat stable Wilson Disease in adults who are de-coppered and able to take penicillamine.

Key Points: 
  • PITTSBURGH, April 19, 2023 /PRNewswire/ -- PANTHERx® Rare, a leader in rare disease product patient access and support services in the United States, is pleased to announce the launch of CUVRIOR to treat stable Wilson Disease in adults who are de-coppered and able to take penicillamine.
  • Wilson Disease is a rare genetic disorder caused by a mutation in the ATP7B gene, resulting in the accumulation of copper throughout the body.
  • CUVRIOR is an innovative oral formulation of the active ingredient trientine created by Orphalan to treat adult patients with stable Wilson Disease who have already been de-coppered.
  • In clinical trials, CUVRIOR was found to be well tolerated and non-inferior to penicillamine in reducing non-ceruloplasmin copper (NCC) levels in Wilson Disease patients.

Ultragenyx Initiates Cyprus2+, a Pivotal Clinical Trial Evaluating UX701 Gene Therapy for the Treatment of Wilson Disease

Retrieved on: 
Monday, October 18, 2021
Patient, Central nervous system, AAV, Death, SOC, Private Securities Litigation Reform Act, Zinc, Liver, Wilson's disease, Lists of diseases, Fibrosis, Cirrhosis, Capsid, Security (finance), ATP7B, Ceruloplasmin, Tissue, Abdominal pain, Therapy, FDA, Disease, Liver disease, Wilson, Biology, Failure, Fatigue, GLOBE, Food, Investment, Uncertainty, Week, Jaundice, U.S. Securities and Exchange Commission, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Liver function tests, Safety, Standard of care, NASDAQ, Copper, COVID-19, Pharmaceutical industry

This study evaluating UX701 for the potential treatment of Wilson disease is designed with 3 seamless stages.

Key Points: 
  • This study evaluating UX701 for the potential treatment of Wilson disease is designed with 3 seamless stages.
  • In stage 2, a new cohort of patients will be randomized 2:1 to receive the selected dose of UX701 or placebo.
  • Wilson disease is a rare inherited disorder caused by mutations in the ATP7B gene, which results in deficient production of ATP7B, a protein that transports copper.
  • UX701 is an investigational AAV type 9 gene therapy designed to deliver stable expression of the ATP7B copper transporter following a single intravenous infusion.

VTX-801 Receives U.S. FDA Fast Track Designation for the Treatment of Wilson Disease

Retrieved on: 
Thursday, August 12, 2021
Yale School of Medicine, Program, Brain, Plasma protein binding, Royal commission, Pfizer, Fast Track, FDA, Lists of diseases, Senior, Safety, ODD, CEO, Food, Genetic disorder, Tropism, Clinical trial, Patient, IND, Orphan, PFE, Tissue, WD, NDA, European Commission, Biomarker, Food and Drug Administration Amendments Act of 2007, Degenerative disease, ATP7B, NYSE, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Liver, Review, EC, Adult, Pharmaceutical industry

Pfizer is collaborating with Vivet on the clinical supply of VTX-801 for the Phase 1/2 clinical trial.

Key Points: 
  • Pfizer is collaborating with Vivet on the clinical supply of VTX-801 for the Phase 1/2 clinical trial.
  • The FDAs decision to grant VTX-801 Fast Track designation underscores the urgent need for new therapeutic options to address this devastating disease, which, if left untreated, can be fatal, said Seng Cheng, Senior Vice President and Chief Scientific Officer of Pfizers Rare Disease Research Unit.
  • VTX-801 is a novel investigational gene therapy for Wilson Disease, which has been granted Orphan Drug Designation (ODD) by the Food and Drug Administration (FDA) and the European Commission (EC) and Fast Track designation by the FDA.
  • The trial is expected to enroll up to sixteen adult patients with Wilson Disease and will evaluate up to three doses of VTX-801.