Suicidal attempt with eliglustat overdose - Nadler J, Hermanns-Clausen M, Dilger K.
Eliglustat is an orphan medicine used for long-term treatment of Gaucher disease type 1 (GD1) in adults. GD1 is a genetic condition, in which glucosylceramide builds up in the body, typically in liver, spleen, and bone. Clinical signs and symptoms of the d... (Source: SafetyLit)
Source: SafetyLit - January 16, 2023 Category: International Medicine & Public Health Tags: Poisoning Source Type: news
Lilly Completes Acquisition of Prevail Therapeutics
INDIANAPOLIS, Jan. 22, 2021 -- (Healthcare Sales & Marketing Network) -- Eli Lilly and Company (NYSE:LLY) today announced the successful completion of its acquisition of Prevail Therapeutics Inc. (NASDAQ: PRVL). The acquisition establishes a new modality ... Biopharmaceuticals, Neurology, Mergers & Acquisitions Eli Lilly, Prevail Therapeutics, Parkinson's disease, Gaucher disease (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - January 22, 2021 Category: Pharmaceuticals Source Type: news
Pediatric Rare Diseases--A Collaborative Approach for Drug Development Using Gaucher Disease as a Model; Draft Guidance for Industry
Rare Diseases (Source: FDA Center for Drug Evaluation and Research - What's New)
Source: FDA Center for Drug Evaluation and Research - What's New - May 15, 2020 Category: Drugs & Pharmacology Authors: FDA Source Type: news
How Does Gaucher Disease Present?
Discussion
Gaucher disease (GD) was first described by Philippe Gaucher in 1882. It was the first lysosomal storage disease (LSD) described and is the comparison prototype for many variations and their treatment. There are about 50 LSD and more well-known ones include Fabry, Niemann-Pick and Pompe diseases. LSDs currently have more than 300 different enzymes or membrane proteins affected which cause central nervous system and visceral disease. Overall the frequency of LSDs in aggregate is 1:3000 – 7000 live births. GD has an estimated prevalence of 1:57,000 – 111,000. It is higher within the Ashkenazi Jewish po...
Source: PediatricEducation.org - December 9, 2019 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
Insuring patient access and affordability for treatments for rare and ultra-rare diseases
(American College of Medical Genetics and Genomics) The last decade has seen tremendous progress in the development of new drugs for patients with genetic disorders, including Cystic Fibrosis, many lysosomal storage disorders (Gaucher disease, Fabry disease and others) and most recently, Duchenne Muscular Dystrophy and Spinal Muscular Atrophy (SMA). The American College of Medical Genetics and Genomics (ACMG) is concerned with the staggering projected cost of these new treatments. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 7, 2018 Category: International Medicine & Public Health Source Type: news
Fetal gene therapy prevents fatal neurodegenerative disease
(SingHealth) A fatal neurodegenerative condition known as Gaucher disease can be prevented in mice following fetal gene therapy, finds a new study led by UCL, the KK Women's and Children's Hospital and National University Health System in Singapore.The study, published today in Nature Medicine, highlights the potential of fetal gene therapy to prevent and cure neonatal lethal neurodegenerative diseases in humans in utero. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 16, 2018 Category: International Medicine & Public Health Source Type: news
PHARMAC changes funding for Gaucher's disease therapy
(Source: PharmacoEconomics and Outcomes News)
Source: PharmacoEconomics and Outcomes News - July 1, 2018 Category: Drugs & Pharmacology Source Type: news
FDA Proposes Drug Development Guidance for Rare Pediatric Diseases FDA Proposes Drug Development Guidance for Rare Pediatric Diseases
The U.S. Food and Drug Administration issued a draft guidance on Wednesday to simplify the procedure of developing drugs for rare pediatric disorders, such as Gaucher ' s disease, by eliminating the need for certain trials and minimizing patient enrollment.Reuters Health Information (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - December 7, 2017 Category: Consumer Health News Tags: Pediatrics News Source Type: news
FDA proposes drug development guidance for rare pediatric diseases
(Reuters) - The U.S. Food and Drug Administration issued a draft guidance on Wednesday to simplify the procedure of developing drugs for rare pediatric disorders, such as Gaucher's disease, by eliminating the need for certain trials and minimizing patient enrollment. (Source: Reuters: Health)
Source: Reuters: Health - December 6, 2017 Category: Consumer Health News Tags: healthNews Source Type: news
EMA and FDA propose new approach for Gaucher disease drug development
The European Medicines Agency (EMA) and the US Food and Drug Administration (FDA) have proposed new approaches to the development of medicine to treat Gaucher disease. (Source: Pharmaceutical Technology)
Source: Pharmaceutical Technology - July 4, 2017 Category: Pharmaceuticals Source Type: news
23andMe is back: FDA allows marketing of genetic health risk tests
[Image courtesy of 23andMe]FDA this month allowed genetic testing company 23andMe to market genetic health risk tests for 10 diseases and conditions including Parkinson’s disease and late-onset Alzheimer’s disease.
The de novo premarket review authorization, announced April 6, also included celiac disease, which results in the inability to digest gluten; alpha-1 antitrypsin deficiency, which raises the risk of lung and liver disease; early-onset primary dystonia, a movement disorder; factor XI deficiency, a blood clotting disorder; Gaucher disease type 1, a disorder involving organs and tissue; glucose-6-phosphate deh...
Source: Mass Device - April 21, 2017 Category: Medical Equipment Authors: Chris Newmarker Tags: Business/Financial News Diagnostics Food & Drug Administration (FDA) Genomics Molecular Diagnostics News Well Regulatory/Compliance 23andme 23andMe Inc. MedTech Source Type: news
Avrobio launches gene therapy program for Gaucher disease
Cambridge, Mass.-based Avrobio said today that it expanded its pipeline to include a preclinical program focused on a gene therapy for Gaucher disease.
The investigational gene therapy makes use of a patient’s blood stem cells, genetically modifying them with a fully functional copy of the faulty gene responsible for the glucosylceramide accumulation that is characteristic of Gaucher disease. Avrobio licensed the technology from Lund University’s Dr. Stefan Karlsson, but did not disclose the terms of the agreement.
Get the full story at our sister site, Drug Delivery Business News.
The post Avrobio launches gene the...
Source: Mass Device - March 22, 2017 Category: Medical Equipment Authors: Sarah Faulkner Tags: Research & Development Stem Cells Wall Street Beat Avrobio Source Type: news
Study suggests new therapy for Gaucher disease
Scientists propose that blocking a molecule that drives inflammation and organ damage in Gaucher, and maybe other lysosomal storage diseases, as a possible treatment with fewer risks and lower costs than current therapies. The team conducted the study in mouse models of lysosomal storage disease and in cells from blood samples donated by people with Gaucher disease. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - February 22, 2017 Category: Science Source Type: news
Nature study suggests new therapy for Gaucher disease
(Cincinnati Children's Hospital Medical Center) Scientists propose in Nature blocking a molecule that drives inflammation and organ damage in Gaucher, and maybe other lysosomal storage diseases, as a possible treatment with fewer risks and lower costs than current therapies. Reporting their data Feb. 22, the international research team conducted the study in mouse models of lysosomal storage disease and in cells from blood samples donated by people with Gaucher disease. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - February 22, 2017 Category: Cancer & Oncology Source Type: news
New Topic Page: Lipid Metabolism Disorders
Visit the new MedlinePlus Health Topic page on Lipid Metabolism Disorders.
Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances... (Source: What's New on MedlinePlus)
Source: What's New on MedlinePlus - August 24, 2016 Category: Consumer Health News Source Type: news
