Wilson's disease

TeleRare Health™ Announces Launch of National Virtual Clinic for Rare Disease Patients

Retrieved on: 
Tuesday, April 30, 2024
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MINNEAPOLIS, April 30, 2024 /PRNewswire/ -- 8:00a (CET) April 30, 2024 - TeleRare Health™ launched today, a virtual clinic for Rare Disease patients and their families.

Key Points: 
  • MINNEAPOLIS, April 30, 2024 /PRNewswire/ -- 8:00a (CET) April 30, 2024 - TeleRare Health™ launched today, a virtual clinic for Rare Disease patients and their families.
  • TeleRare Health aims to be the premier provider of virtual care for rare and genomic disease nationwide, envisioning a world where all patients have access to cutting edge diagnostics, treatments, and specialists.
  • "Significant breakthroughs have occurred in the management of rare disease," said Alex Katz, MD, medical geneticist and Chief Medical Officer of TeleRare Health.
  • We're overdue for a virtual clinic for the millions of Americans with rare disease conditions, and TeleRare Health's launch is cause for optimism.

Key Proteo Announces Clinical Laboratory Expansion Plans Including New CLIA-Certified Laboratory

Retrieved on: 
Thursday, March 7, 2024
Wilson's disease, Growth, Wiskott–Aldrich syndrome, Adenosine deaminase, Classification, DSM-IV codes, Research, IVD, Proteomics, Pharmaceutical industry

SEATTLE, March 7, 2024 /PRNewswire/ -- Key Proteo, a pioneering proteomics diagnostics company specializing in the early identification of rare but treatable genetic disorders, announced it has initiated plans to build a new CLIA-certified laboratory as part of its initial commercialization and growth strategy to enhance newborn screening programs. The new larger facility and expanded scope of operations will allow Key Proteo to serve unaddressed newborn screening needs among public health laboratories, reference laboratories, hospital laboratories and other providers associated with neonatal care, while maintaining dedicated lab operations for ongoing clinical research and other collaborative opportunities.

Key Points: 
  • The new larger facility and expanded scope of operations will allow Key Proteo to serve unaddressed newborn screening needs among public health laboratories, reference laboratories, hospital laboratories and other providers associated with neonatal care, while maintaining dedicated lab operations for ongoing clinical research and other collaborative opportunities.
  • Based in Seattle, the new 5,000-square-foot facility will include the addition of a state-of-the art CLIA-certified clinical laboratory alongside Key Proteo's corporate headquarters and dedicated clinical research facilities.
  • Buildout of the lab has commenced, and, upon launch, Key Proteo's first newborn screening panel will target four treatable genetic orders including Wilson's disease, Wiskott-Aldrich syndrome, X-linked a-y-globulinemia and adenosine deaminase (ADA) deficiency.
  • In parallel path, Key Proteo is pursuing FDA De Novo classification of an in vitro diagnostic (IVD) test kit for the same four disorders.

For Rare Liver Disease Patients, Care Transitions Pose Yet Another Risk

Retrieved on: 
Thursday, February 1, 2024
Policy, Family, Calendar, GLI, Wilson's disease, Caregiver, Patient, Transplant, Diagnosis, Hepatology, Empowerment, PBC, Primary biliary cholangitis, Disease, Communication, Drug development, Human, Health care, Social, Health, Liver, Liver disease, Medicare, JD, Kidney disease, Nursing

Rare liver diseases, in many cases, require life-long management, including both inpatient and outpatient care, serious procedures, and lifestyle interventions.

Key Points: 
  • Rare liver diseases, in many cases, require life-long management, including both inpatient and outpatient care, serious procedures, and lifestyle interventions.
  • “Rare liver disease patients face needless obstacles just to receive an accurate diagnosis and the care they require,” shared Donna R. Cryer, JD, founder and CEO of GLI.
  • The campaign culminates in advocacy efforts to increase policy attention to rare liver diseases on the rarest day on the calendar, February 29 – Rare Disease Day.
  • No matter the role, each person can make a difference to ensure smooth transitions in care for patients with rare liver disease.

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
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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.

Orphalan announces China NMPA’s approval of its trientine tetrahydrochloride product for the treatment of Wilson disease

Retrieved on: 
Thursday, January 18, 2024
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It offers a new treatment option for Wilson disease in children aged five years and older and adults intolerant to penicillamine therapy.

Key Points: 
  • It offers a new treatment option for Wilson disease in children aged five years and older and adults intolerant to penicillamine therapy.
  • China is home to an estimated 80,000 individuals with Wilson disease, of whom approximately half have their diagnosis confirmed, and 25,000 are receiving regular treatment.
  • Dr Naseem Amin, Chief Executive Officer at Orphalan, said: “We are pleased with the marketing authorisation approval of our trientine tetrahydrochloride product in China, which offers a well-tolerated and effective treatment option for patients with Wilson disease.
  • It is a significant step for those of us living with Wilson disease, representing a much-needed alternative treatment option.

Human medicines European public assessment report (EPAR): Cufence, trientine dihydrochloride, Date of authorisation: 25/07/2019, Revision: 6, Status: Authorised

Retrieved on: 
Tuesday, January 2, 2024
Copper, Urine, Liver, Medical Subject Headings, Diarrhea, Marketing, Meal, Duodenitis, Roger Hawkins (drummer), DSM-IV codes, INN, Deficit spending, Metabolism, Stomach, ATC, Pain, Capsule, International, Tremor, Dysarthria, Ageing, Nausea, Language, Brain, Inflammation, Duodenum, European Medicines Agency, Wilson's disease, Dystonia, Select, Patient, Liver disease, Safety, Anatomy, IIA, Medical device

Human medicines European public assessment report (EPAR): Cufence, trientine dihydrochloride, Date of authorisation: 25/07/2019, Revision: 6, Status: Authorised

Key Points: 


Human medicines European public assessment report (EPAR): Cufence, trientine dihydrochloride, Date of authorisation: 25/07/2019, Revision: 6, Status: Authorised

Vivet Therapeutics Announces Presentations at Upcoming European Society of Gene and Cell Therapy (ESGCT) 2023 Annual Congress

Retrieved on: 
Monday, October 23, 2023
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Paris, France, October 23, 2023 (GLOBE NEWSWIRE) – Vivet Therapeutics (“Vivet”), a clinical-stage biotechnology company developing novel gene therapies for rare, inherited metabolic conditions, announced its participation and presentations at the 30th European Society of Gene and Cell Therapy (ESGCT) 2023 Annual Congress.

Key Points: 
  • Paris, France, October 23, 2023 (GLOBE NEWSWIRE) – Vivet Therapeutics (“Vivet”), a clinical-stage biotechnology company developing novel gene therapies for rare, inherited metabolic conditions, announced its participation and presentations at the 30th European Society of Gene and Cell Therapy (ESGCT) 2023 Annual Congress.
  • The congress will be held from October 24 – 27, 2023, in Brussels, Belgium.
  • Gloria Gonzalez-Aseguinolaza, Vivet Therapeutics Chief Scientific Officer, will also present new preclinical results related to its lead program VTX-801, which utilizes the proprietary recombinant AAV (rAAV) technology to target Wilson disease.
  • The presentation and poster details are listed below; the full program is available on the ESGCT website .

Ultragenyx Announces Program and Pipeline Updates at Analyst Day Including Interim Data from Ongoing Studies in Osteogenesis Imperfecta (OI), Angelman Syndrome (AS) and Wilson Disease

Retrieved on: 
Monday, October 16, 2023
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NOVATO, Calif., Oct. 16, 2023 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE) today will provide updates on its development pipeline, including setrusumab (UX143) for osteogenesis imperfecta (OI), GTX-102 for Angelman syndrome (AS), UX701 in Wilson disease and the rest of the company’s gene therapy portfolio at an Analyst Day held in New York City and by webcast.

Key Points: 
  • Long term data showed patients who stopped and restarted treatment reacquired previously gained developmental skills when they were re-dosed with the current regimen.
  • There have been no additional treatment-related SAEs, including lower extremity weakness, since November 2022.
  • ET on Monday, October 16, 2023 to discuss these data and to provide an update on the company’s development pipeline.
  • An archived version of the remarks will also be available through the Ultragenyx website.

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.

WorldUpstart and Quartermaster Science + Technology Park Launch Fall 2023 US Market Gateway Accelerator with 11 Impressive International MedTech & Life Sciences Companies

Retrieved on: 
Thursday, August 31, 2023
Molecular biology, Wilson's disease, Medical device, Aldi, Neoplasm, Mentorship, Wilson, Dialysis, Hospital, Acquisition, Digital health, Patient, EHR, European, Health, Telepathology, Pharmacy, 3D, Research, Sepsis, HPV, Growth, Quartermaster, Medtech, Microbiology, Caregiver, Workflow, Cancer, Bank, Traction, US Market Access Center, ACLF, IRIS, Clinical trial, AKI, Drug development, ICU, Pharmaceutical industry, Medical imaging, Industrial design

PHILADELPHIA, Aug. 31, 2023 /PRNewswire/ -- Scheer Partners Inc is proud to announce the Quartermaster Science +Technology Park and WorldUpstart, LLC are hosting the Fall 2023 US Market Gateway Accelerator and have registered 11 international Life Science and MedTech companies poised for growth.

Key Points: 
  • PHILADELPHIA, Aug. 31, 2023 /PRNewswire/ -- Scheer Partners Inc is proud to announce the Quartermaster Science +Technology Park and WorldUpstart, LLC are hosting the Fall 2023 US Market Gateway Accelerator and have registered 11 international Life Science and MedTech companies poised for growth.
  • This 8-week hybrid program launches on September 11, 2023 and concludes on November 9, 2023 with a visit to Philadelphia.
  • "US Market expansion brings tremendous opportunities and challenges for companies, who often encounter blind spots when attempting to go it alone.
  • The US Market Gateway Accelerator for BioSciences and MedTech will be hosted at The Quartermaster Science + Technology Park, which is a $250 million mixed-use commercial redevelopment in Philadelphia's Point Breeze South Philadelphia location.