Glycogen storage disease type II

Aro Biotherapeutics Announces Start of First in Human Study with ABX1100, a Novel First in Class Centyrin-siRNA Conjugate in Development for Pompe Disease

Retrieved on: 
Wednesday, October 25, 2023
Research, Genetics, Clinical Trials, Biotechnology, Other Health, Health, Pharmaceutical, Other Science, Science, Glycogen storage disease type II, Biomarker, Glycogen, Protalix BioTherapeutics, MD, Liver, Doctor of Philosophy, Pharmacokinetics, Tissue, Sirna Therapeutics, Safety, Patient, Pharmaceutical industry

ABX1100 is a first-in-class molecule representing a new approach to reducing toxic levels of glycogen that build up in muscles of patients with Pompe Disease.

Key Points: 
  • ABX1100 is a first-in-class molecule representing a new approach to reducing toxic levels of glycogen that build up in muscles of patients with Pompe Disease.
  • “We are thrilled to advance ABX1100 into the clinic,” said Mittie Doyle, MD, FACR, Chief Medical Officer of Aro Biotherapeutics.
  • The study is designed to assess safety, tolerability, pharmacokinetics along with various pharmacodynamic biomarkers that will be evaluated to demonstrate target engagement.
  • The company anticipates presenting data from the Phase 1 study in 2024.

Global Enzyme Replacement Therapy (ERT) Market Research Report 2023-2032 Featuring Key Players - Biomarin Pharmaceutical, Leadiant Biosciences, Pfizer, Sanofi, & AbbVie - ResearchAndMarkets.com

Retrieved on: 
Thursday, October 5, 2023
General Health, Pharmaceutical, Health, Elosulfase alfa, Alpha-mannosidosis, Research report, Hope, Prevalence, Enzyme replacement therapy, Fabry disease, Alpha-galactosidase, Liver, Ageing, FDA, Gaucher's disease, Ecosystem, Sebelipase alfa, DSM-IV codes, GAG, ERT, Enzyme, Glycogen storage disease type II, Pharmaceutical industry, Velmanase alfa, Medicine

The "Enzyme Replacement Therapy Global Market Report 2023" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Enzyme Replacement Therapy Global Market Report 2023" report has been added to ResearchAndMarkets.com's offering.
  • In the forefront of medical advancement, the enzyme replacement therapy (ERT) market stands tall, offering vital treatment avenues for individuals grappling with chronic disorders arising from enzyme deficiencies.
  • The research report delves deep into the nuances of the ERT sector, highlighting market statistics, regional shares, and key players commanding significant market share.
  • The report also touches upon the market revenues, detailing contributions from key treatments like Sebelipase alfa, Elosulfase alfa, and more.

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)

WuXi Biologics Congratulates Amicus Therapeutics on U.S. FDA Approval for New Treatment for Pompe Disease

Retrieved on: 
Monday, October 2, 2023
Partnership, Therapy, Glycogen storage disease type II, Medicine, Development, Capsule, ERT, GAA, Contract research organization, Patient, WuXi Biologics, Rare, Amicus Therapeutics, Enzyme replacement therapy, FDA, Disease, Fine chemical, Pharmaceutical industry

WUXI, China, Oct. 1, 2023 /PRNewswire/ -- WuXi Biologics ("WuXi Bio") (2269.HK), a leading global Contract Research, Development and Manufacturing Organization (CRDMO), congratulates its strategic partner, Amicus Therapeutics ("Amicus") (Nasdaq: FOLD), on receiving U.S. FDA's approval for Pombiliti™ (cipaglucosidase alfa-atga) + Opfolda™ (miglustat) 65mg capsules.

Key Points: 
  • WUXI, China, Oct. 1, 2023 /PRNewswire/ -- WuXi Biologics ("WuXi Bio") (2269.HK), a leading global Contract Research, Development and Manufacturing Organization (CRDMO), congratulates its strategic partner, Amicus Therapeutics ("Amicus") (Nasdaq: FOLD), on receiving U.S. FDA's approval for Pombiliti™ (cipaglucosidase alfa-atga) + Opfolda™ (miglustat) 65mg capsules.
  • This two-component therapy is indicated for those adults living with late-onset Pompe disease (LOPD) weighing ≥40 kg and who are not improving on their current enzyme replacement therapy (ERT).
  • Bradley Campbell, President and Chief Executive Officer of Amicus Therapeutics, commented, "This approval marks a major milestone for the Pompe disease community in the United States.
  • Dr. Chris Chen, CEO of WuXi Biologics, commented, "We're honored to enable Amicus to achieve this great milestone, which we've been looking forward to for over 11 years.

WuXi Biologics Congratulates Amicus Therapeutics on U.S. FDA Approval for New Treatment for Pompe Disease

Retrieved on: 
Monday, October 2, 2023
Partnership, Therapy, Glycogen storage disease type II, Medicine, Development, Capsule, ERT, GAA, Contract research organization, Patient, WuXi Biologics, Rare, Amicus Therapeutics, Enzyme replacement therapy, FDA, Disease, Fine chemical, Pharmaceutical industry

WUXI, China, Oct. 2, 2023 /PRNewswire/ -- WuXi Biologics ("WuXi Bio") (2269.HK), a leading global Contract Research, Development and Manufacturing Organization (CRDMO), congratulates its strategic partner, Amicus Therapeutics ("Amicus") (Nasdaq: FOLD), on receiving U.S. FDA's approval for Pombiliti™ (cipaglucosidase alfa-atga) + Opfolda™ (miglustat) 65mg capsules.

Key Points: 
  • WUXI, China, Oct. 2, 2023 /PRNewswire/ -- WuXi Biologics ("WuXi Bio") (2269.HK), a leading global Contract Research, Development and Manufacturing Organization (CRDMO), congratulates its strategic partner, Amicus Therapeutics ("Amicus") (Nasdaq: FOLD), on receiving U.S. FDA's approval for Pombiliti™ (cipaglucosidase alfa-atga) + Opfolda™ (miglustat) 65mg capsules.
  • This two-component therapy is indicated for those adults living with late-onset Pompe disease (LOPD) weighing ≥40 kg and who are not improving on their current enzyme replacement therapy (ERT).
  • Bradley Campbell, President and Chief Executive Officer of Amicus Therapeutics, commented, "This approval marks a major milestone for the Pompe disease community in the United States.
  • Dr. Chris Chen, CEO of WuXi Biologics, commented, "We're honored to enable Amicus to achieve this great milestone, which we've been looking forward to for over 11 years.

Orsini Specialty Pharmacy Partners with Amicus Therapeutics to Dispense New Therapy for the Treatment of Late-Onset Pompe Disease

Retrieved on: 
Thursday, September 28, 2023
Pharmacy, Glycogen, Glycogen storage disease, Miglustat, Amicus, Glycogen storage disease type II, Cell, Skeletal muscle, Muscle weakness, ELK, GAA, ERT, Infant, Patient, Cipaglucosidase alfa, Amicus Therapeutics, Enzyme replacement therapy, Disease, Pharmaceutical industry

ELK GROVE VILLAGE, Ill., Sept. 28, 2023 /PRNewswire/ -- Orsini Specialty Pharmacy has been selected by Amicus Therapeutics to dispense Pombiliti™ (cipaglucosidase alfa-atga) and Opfolda™ (miglustat), a two-component treatment approved for certain patients with late-onset Pompe disease.

Key Points: 
  • ELK GROVE VILLAGE, Ill., Sept. 28, 2023 /PRNewswire/ -- Orsini Specialty Pharmacy has been selected by Amicus Therapeutics to dispense Pombiliti™ (cipaglucosidase alfa-atga) and Opfolda™ (miglustat), a two-component treatment approved for certain patients with late-onset Pompe disease.
  • Please see full Prescribing Information, including BOXED WARNING, for POMBILITI and full Prescribing Information for OPFOLDA , also available at amicusrx.com .
  • Pompe disease is an inherited lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase.
  • We are pleased to partner with Amicus to bring Pombiliti and Opfolda to patients suffering from this devastating disease.

Muscular Dystrophy Association Celebrates FDA Approval of Amicus Therapeutics’ Pombiliti + Opfolda for Treatment of Pompe Disease

Retrieved on: 
Thursday, September 28, 2023
Duke University, US Food Sovereignty Alliance, University, Pediatrics, Doctor of Philosophy, Public policy, B cell, Glycogen storage disease type II, Medicine, Associate, Science, Capsule, ERT, Patient, Muscular Dystrophy Association, Blood, Amicus Therapeutics, MDA, FDA, Enzyme replacement therapy, Pharmaceutical industry, Cipaglucosidase alfa

New York, Sept. 28, 2023 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA) celebrates the US Food and Drug Administration (FDA) approval of Pombiliti™ (cipaglucosidase alfa-atga) + Opfolda™ (miglustat) 65mg capsules for adults living with late-onset Pompe disease (LOPD).

Key Points: 
  • New York, Sept. 28, 2023 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA) celebrates the US Food and Drug Administration (FDA) approval of Pombiliti™ (cipaglucosidase alfa-atga) + Opfolda™ (miglustat) 65mg capsules for adults living with late-onset Pompe disease (LOPD).
  • Pombiliti™ + Opfolda™ will be made available and marketed in the United States by Amicus Therapeutics.
  • Pombiliti™ + Opfolda™ is a novel two-component therapy consisting cipaglucosidase alfa-atga, a long-term enzyme replacement therapy (ERT), and miglustat, an oral enzyme stabilizer.
  • "We are extremely pleased with the recent approval of Pombiliti and Opfolda,” said Sharon Hesterlee, Ph.D., Chief Research Officer, MDA.

EveryLife Foundation Study Measures Economic Impact of Delayed Diagnosis of Rare Diseases

Retrieved on: 
Thursday, September 14, 2023
Research, Congressional News, Views, Public Policy, Government, Healthcare Reform, Health, State, Local, General Health, Other Science, Science, Bureau of Labor Statistics, Workforce, Medicine, Medicaid, Life, New Era, ALD, Bureau, Survival, Quality of life, Pfizer, Glycogen storage disease type II, Pharmacy, Anatomical pathology, Diagnosis, Patient engagement in Canada, Occupational therapy, Genetic counseling, FXS, Genetic testing, UnitedHealth Group, Pharmaceutical Research and Manufacturers of America, Sibling, DMD, Alexion Pharmaceuticals, HIV disease progression rates, American College of Medical Genetics and Genomics, Patient, Pediatrics, Physician, Clutch (eggs), Sanofi, Rare, Amicus Therapeutics, Mortality, Infant, American College, Medical genetics, Disease, Medical imaging, Medical device, Pharmaceutical industry, SCID, Genomics, Genentech, Ultragenyx, Optum, Policy

This new study on the Cost of Delayed Diagnosis is a follow-up to the landmark 2021 “ National Economic Burden of Rare Disease Study ,” which estimated that the economic impact of 379 rare diseases in 2019 was nearly $1 trillion, with 60% of those costs being shouldered directly by families and society.

Key Points: 
  • This new study on the Cost of Delayed Diagnosis is a follow-up to the landmark 2021 “ National Economic Burden of Rare Disease Study ,” which estimated that the economic impact of 379 rare diseases in 2019 was nearly $1 trillion, with 60% of those costs being shouldered directly by families and society.
  • “Medical costs for rare diseases are inevitable, but avoidable costs from delayed diagnosis not only place financial strain on individuals and families but also divert crucial healthcare funds.
  • For individuals with late onset Pompe disease, delayed diagnosis increased mean annual direct medical costs in the year of diagnosis by approximately $50,000 per patient compared with timely diagnosis.
  • For more information about “Cost Benefits of Early Diagnosis and Screening in Rare Disease” study, visit the study website at everylifefoundation.org/delayed-diagnosis-study .

Muscular Dystrophy Association Announces Research Grants Totaling $8.4 Million

Retrieved on: 
Wednesday, September 13, 2023
Muscular dystrophy, Mir-126, Muscular Dystrophy Association, SMA, SMN, University, Duchenne muscular dystrophy, EDMD, DM, Grant, Doctor of Philosophy, Barrier, DM1, University of Zurich, Johns Hopkins School of Medicine, Columbia University Irving Medical Center, Tel Aviv University, Emery–Dreifuss muscular dystrophy, University of Iowa, Prognosis, Research, Mentorship, Charcot–Marie–Tooth disease, RNA, CMT, Duchenne, Facial muscles, Glycogen storage disease type II, Student, University of Rochester, Neuromuscular disease, DMD, Patient, Regents of the University of Michigan, Diagnosis, Growth, Regent, B cell, Health, MDA, FDA, Mobile app, ALS, Myotonic dystrophy, LGMD, Disease, Pharmaceutical industry, Medical device, Nursing, Exercise

New York, Sept. 13, 2023 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA) announced today the awarding of 37 new grants with a total funding commitment of $8.4 million toward neuromuscular disease research.

Key Points: 
  • New York, Sept. 13, 2023 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA) announced today the awarding of 37 new grants with a total funding commitment of $8.4 million toward neuromuscular disease research.
  • The newly funded projects aim to advance research discoveries and new therapy development in multiple areas including amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease (CMT), Duchenne muscular dystrophy (DMD), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), spinal muscular atrophy (SMA), myotonic dystrophy (DM), and many more.
  • “The Muscular Dystrophy Association has consistently been a leader in advancing treatments for people living with muscular dystrophy, ALS and related neuromuscular diseases,” said Donald S. Wood, Ph.D., President and CEO, Muscular Dystrophy Association.
  • Internship recipients and mentors included:
    These are just a few of the many grants the Muscular Dystrophy Association has pledged to support.

Amicus Therapeutics Announces Approval and Launch of New Pompe Disease Therapy in the United Kingdom

Retrieved on: 
Tuesday, August 15, 2023
Tissue, Salford Royal NHS Foundation Trust, National Health Service, Friends, Marketing, Health care, Glycogen, Medication, Glycogen storage disease type II, Amicus Therapeutics, EAMS, ERT, GAA, Patient, Trustee, Physician, Lysosome, National Institute for Health and Care Excellence, NHS, Rare, Enzyme replacement therapy, Therapy, Orphan, Family, PROPEL, NICE, MHRA, GB, Pharmaceutical industry, Cipaglucosidase alfa

PHILADELPHIA and MARLOW, United Kingdom, Aug. 15, 2023 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), a patient-dedicated global biotechnology company focused on developing and commercializing novel medicines for rare diseases, today announced that the Medicines and Healthcare products Regulatory Agency (MHRA) of the United Kingdom (U.K.) has granted marketing authorizations for Pombiliti® (cipaglucosidase alfa) + Opfolda® (miglustat) for adults living with late-onset Pompe disease (acid α-glucosidase [GAA] deficiency). The indication for Pombiliti is a long-term enzyme replacement therapy (ERT) used in combination with miglustat for adults with late-onset Pompe disease (LOPD). The indication for Opfolda is an enzyme stabilizer of cipaglucosidase alfa long-term enzyme replacement therapy for adults with LOPD.

Key Points: 
  • The indication for Pombiliti is a long-term enzyme replacement therapy (ERT) used in combination with miglustat for adults with late-onset Pompe disease (LOPD).
  • The indication for Opfolda is an enzyme stabilizer of cipaglucosidase alfa long-term enzyme replacement therapy for adults with LOPD.
  • Disease severity ranges on a spectrum, but predominant manifestations are skeletal muscle weakness and progressive respiratory involvement.
  • Both will benefit from 10 years of market exclusivity in respect of similar medicinal products in the approved orphan indication.