Pompe

In Sickness. Men and the Culture of Caregiving Launches as Podcast Sharing Powerful Stories of Male Caregivers

Retrieved on: 
Thursday, February 29, 2024
Biotechnology, General Health, Health, Other Health, Rare disease, Caregiver, Woman, Hearing, Pompe, ALS, Medicine, Spouse, The Cure, Friends, BIO, Amicus Therapeutics, Culture, Diagnosis, Child, Male, Genzyme, Face, Residential care

Episode 1 features the incredible story of John F. Crowley, former Genzyme executive, Amicus Therapeutics founding CEO and Executive Chairman, and incoming CEO of BIO. Crowley is best known for his role as an entrepreneur in the biotechnology industry following the 1998 diagnosis of his two youngest children with Pompe disease, a rare and often fatal neuromuscular disorder. His children’s diagnosis inspired him to co-found a biotech company to develop a treatment that he credits with ultimately saving his children’s lives. The Crowley family journey was chronicled in the book “The Cure: How a Father Raised $100 Million--and Bucked the Medical Establishment--in a Quest to Save His Children” by Geeta Anand and also depicted in the major motion picture “Extraordinary Measures” starring Harrison Ford, Brendan Fraser and Keri Russell.

Key Points: 
  • Episode 1 features the incredible story of John F. Crowley , former Genzyme executive, Amicus Therapeutics founding CEO and Executive Chairman, and incoming CEO of BIO.
  • Men and the Culture of Caregiving will focus mostly on stories of male caregivers who have supported individuals with various diseases and medical conditions across all therapeutic areas including select cancers, ALS, Alzheimer’s, and numerous rare diseases.
  • “As more men are identifying themselves as caregivers for their loved ones, it’s great there will be an avenue, like this podcast, for male caregivers to share their experiences,” said Marvell Adams, Jr. CEO, Caregiver Action Network.
  • “We are looking forward to hearing what these caregivers have to say—as they continue to amplify the needs of the over 90 million caregivers in the US."

A Collaborative Approach to Advancing Access and Equity in Rare Disease Clinical Trials, Upcoming Webinar Hosted by Xtalks

Retrieved on: 
Tuesday, February 13, 2024
Rare disease, Collection, Bachelor of Science, Pompe, RN, Clinical trial, Amicus Therapeutics, Patient, Patient recruitment, Sponsor, MBBS, Trial of the century, Pharmaceutical industry

TORONTO, Feb. 13, 2024 /PRNewswire-PRWeb/ -- Ensuring that all patients have equal access to participate in clinical trials across all geographies has become essential throughout the industry. Patient recruitment and retention remain one of the most challenging hurdles in clinical development, particularly for rare diseases. Implementing a patient-focused clinical trial design and fostering a collaborative approach between the Sponsor, CRO, sites, and advocacy groups can help lead to successful clinical trials.

Key Points: 
  • The featured speakers will discuss how to engage and support patients in rare disease clinical trials.
  • Implementing a patient-focused clinical trial design and fostering a collaborative approach between the Sponsor, CRO, sites, and advocacy groups can help lead to successful clinical trials.
  • In this webinar, Medpace , a global full-service CRO, will discuss the importance of equity in patient-friendly rare disease trials.
  • Register now for the Rare Disease Day 2024 webinar to join the discussion with clinical trial experts on a collaborative approach to patient-friendly trials in rare disease.

Amicus Therapeutics Receives the 2024 New Treatment Award for Pombiliti™ (cipaglucosidase alfa-atga) + Opfolda™ (miglustat) at the 20th Annual WORLDSymposium™

Retrieved on: 
Thursday, February 8, 2024
Partnership, Amicus Therapeutics, Cipaglucosidase alfa, Glycogen, Myopathy, ERT, B cell, FDA, GAA, Fabry disease, Food, Physician, Blood, Therapy, Lysosome, Enzyme replacement therapy, Medicine, Pompe, Pharmaceutical industry

Once in the cell, Pombiliti can be properly processed into its most active and mature form to break down glycogen.

Key Points: 
  • Once in the cell, Pombiliti can be properly processed into its most active and mature form to break down glycogen.
  • Late-onset Pompe disease is a rare, debilitating, and life-threatening lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA).
  • This is the second WORLDSymposium™ New Treatment Award presented to Amicus.
  • Amicus received the award in 2017 for the first and only oral therapy approved for people living with Fabry disease.

Orphan designation: autologous CD34+ cells transduced with a lentiviral vector containing the human GAA gene Treatment of glycogen storage disease type II (Pompe's disease), 15/02/2024 Positive

Retrieved on: 
Saturday, January 20, 2024
COMP, European Commission, EMA, IRIS, GAA, Patient, Pompe, Committee, Pharmaceutical industry

Key facts

Key Points: 
  • Key facts
    - Active substance
    - autologous CD34+ cells transduced with a lentiviral vector containing the human GAA gene
    - Intended use
    - Treatment of glycogen storage disease type II (Pompe's disease)
    - Orphan designation status
    - Positive
    - EU designation number
    - EU/3/23/2751
    - Date of designation
    - Sponsor
    Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)
    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:

Maze Therapeutics Announces FTC Action Seeking to Block Collaboration and License Agreement with Sanofi Regarding MZE001, a Potential Oral Substrate Reduction Therapy for Pompe Disease

Retrieved on: 
Monday, December 11, 2023
Stem Cells, Biotechnology, FDA, Health, General Health, Pharmaceutical, Health Technology, Research, Genetics, Science, Clinical Trials, Motivation, Chronic kidney disease, APOL1, Therapy, Complaint, Sanofi, Patient, Hart–Scott–Rodino Antitrust Improvements Act, FTC, Apolipoprotein L1, HSR, Pharmaceutical industry, Pompe

The agreement was originally announced in May 2023 with closing subject to review under the Hart-Scott-Rodino (HSR) Act.

Key Points: 
  • The agreement was originally announced in May 2023 with closing subject to review under the Hart-Scott-Rodino (HSR) Act.
  • “At Maze, our commitment is to the patients around the world that we believe can benefit from our work.
  • With positive preclinical and Phase 1 data, MZE001 has the potential to be the first oral therapeutic option to address Pompe disease, providing a new option for patients suffering from Pompe disease.
  • Maze’s second undisclosed program in chronic kidney disease is scheduled to commence clinical trials in the second half of 2024.

CITGO Raises More Than $2.9 Million for Muscular Dystrophy Association

Retrieved on: 
Monday, December 18, 2023
Research, Muscular Dystrophy Association, Gene, Friedreich's ataxia, Myasthenia gravis, Citgo, ALS, MDA, Muscular dystrophy, CITGO, Duchenne muscular dystrophy, Pompe

HOUSTON, Dec. 18, 2023 /PRNewswire/ -- CITGO Petroleum Corporation concluded another successful fundraising year with more than $2.9 million raised for the Muscular Dystrophy Association's (MDA) mission for families living with muscular dystrophy, ALS and related neuromuscular diseases.

Key Points: 
  • HOUSTON, Dec. 18, 2023 /PRNewswire/ -- CITGO Petroleum Corporation concluded another successful fundraising year with more than $2.9 million raised for the Muscular Dystrophy Association's (MDA) mission for families living with muscular dystrophy, ALS and related neuromuscular diseases.
  • Funds raised will be used towards accelerating research, advancing multidisciplinary care, and advocating for inclusion, access and equity for the neuromuscular community.
  • and Corpus Christi, Texas set new fundraising records, raising more than $970,000, $500,000 and $645,000 respectively.
  • CITGO is a cherished partner in the progress we are making to empower families to live longer more independent lives."

RARE-X Launches Pompe Consortium to Support Patient-Owned Data Collection and Aggregated Data Sharing with Patient Community, Biopharma and Research Collaborators

Retrieved on: 
Wednesday, December 6, 2023
Marshall Mountains, Research, Food, Organization, Disease, Sanofi, Patient, Global Genes, Heart, Data collection, Health, Caregiver, Diagnosis, Glycogen storage disease, Gene, Enzyme replacement therapy, Cell, Pharmaceutical industry, Pompe

ALISO VIEJO, Calif., Dec. 6, 2023 /PRNewswire-PRWeb/ -- RARE-X, Global Genes' research program and data-sharing platform, today announced the launch of The Pompe Consortium. The Pompe Consortium is a group representing a cross section of participants from the rare disease ecosystem, including individuals with rare diseases, advocacy organizations, biopharmaceutical companies, and academic researchers. The consortium will provide steering for a collaboration with RARE-X which is designed to enable improved Pompe disease ecosystem health by pooling the high-quality data needed to develop new knowledge that advances understanding, research and development of therapies in support of people living with Pompe disease.

Key Points: 
  • Global Genes' research program, RARE-X, launches Pompe Consortium, gathering together individuals with rare diseases, advocacy organizations, biopharmaceutical companies, and academic researchers, to support patient-owned data collection and aggregated data sharing with patient community, biopharma and research collaborators.
  • ALISO VIEJO, Calif., Dec. 6, 2023 /PRNewswire-PRWeb/ -- RARE-X, Global Genes' research program and data-sharing platform, today announced the launch of The Pompe Consortium.
  • The Pompe Consortium is the second consortium RARE-X has launched with both industry and advocacy collaborators.
  • The Pompe Consortium includes the participation of biopharmaceutical companies and patient advocacy organizations, as well as academic researchers.

Amicus Therapeutics Announces Presentation and Posters at World Muscle Society 2023

Retrieved on: 
Tuesday, October 3, 2023
Safety, WMS, Amicus Therapeutics, Miglustat, Therapy, Pompe, Glycogen storage disease type II, Poster, MD, Doctor of Philosophy, Pharmaceutical industry

PRINCETON, N.J., Oct. 03, 2023 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), today announced that one oral presentation and four posters highlighting its development program for Pompe disease will be included at the 28th Annual Congress of the World Muscle Society (WMS) , being held October 3-7, 2023 in Charleston, SC.

Key Points: 
  • PRINCETON, N.J., Oct. 03, 2023 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), today announced that one oral presentation and four posters highlighting its development program for Pompe disease will be included at the 28th Annual Congress of the World Muscle Society (WMS) , being held October 3-7, 2023 in Charleston, SC.
  • Presenter: Jordi Díaz-Manera, MD, PhD, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, U.K.
    Abstract Title: Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials (Poster #P372)
    Abstract Title: Disease burden, treatment patterns and healthcare resource utilization associated with Pompe disease in Sweden: a real-world evidence study (ePoster #VP369)

RespireRx Pharmaceuticals Inc. Establishes Research Collaboration With University College London to Study the Use of AMPAkines for the Treatment of GRIA Disorders

Retrieved on: 
Wednesday, April 5, 2023
University College London, Learning, UCL, Pompe, UCL Department of Information Studies, OTC Markets Group, DRS, University of Wisconsin–Milwaukee, Disorder, Patient, University, Indiana University–Purdue University Indianapolis, Drug discovery, Ampakine, GRIA, Rafael Ampar, Memory, RespireRx, Pharmaceutical industry, Neuroscience, Pharmacology, Physiology

Positive therapeutic effects with RespireRx’s AMPAkines already have been reported in animal mutations modelling related disorders such as Pompe that also suffer from declines in AMPA receptor functioning.

Key Points: 
  • Positive therapeutic effects with RespireRx’s AMPAkines already have been reported in animal mutations modelling related disorders such as Pompe that also suffer from declines in AMPA receptor functioning.
  • The RespireRx team that will collaborate with Dr. Coombs, Prof. Farrant and Prof. Cull-Candy includes Drs.
  • Jeffrey M. Witkin and Rok Cerne, both of whom are RespireRx Research Fellows in addition to their academic affiliations at The University of Wisconsin-Milwaukee, Ascension St. Vincent Hospital and Indiana University/Purdue University, respectively.
  • The team has extensive expertise and are well known for their work in drug discovery and development, including novel analgesic, anxiolytic, anti-epileptic and anti-depressant drugs.

Maze Therapeutics Announces New Clinical Data Supporting MZE001 as a Potential Treatment for Pompe Disease

Retrieved on: 
Wednesday, March 22, 2023
Software, Research, General Health, Pharmaceutical, Oncology, Data Management, Technology, Genetics, Clinical Trials, Science, Biotechnology, Health, Tissue, Muscular Dystrophy Association, Pompe, Glycogen, Glycogen storage disease type II, Enzyme replacement therapy, Blood, HIV disease progression rates, Patient, Episcopal conference, MDA, Therapy, Mass drug administration, Conference, Biopsy, Pharmaceutical industry, Maze, PBMC

The data are being presented today, March 22, 2023, from 3:00-3:15 p.m. CT, during a late-breaking clinical session at the Muscular Dystrophy Association (MDA) Clinical and Scientific Conference in Dallas.

Key Points: 
  • The data are being presented today, March 22, 2023, from 3:00-3:15 p.m. CT, during a late-breaking clinical session at the Muscular Dystrophy Association (MDA) Clinical and Scientific Conference in Dallas.
  • The buildup of glycogen in skeletal, respiratory and cardiac muscle tissues is the primary driver of disease progression in patients with Pompe disease.
  • MZE001, a selective inhibitor of glycogen synthase 1 in muscle, is being developed to address this therapeutic gap.
  • Maze has developed a novel biomarker, peripheral blood mononuclear cell (PBMC) glycogen, as a surrogate for glycogen in skeletal muscle.